Details of Disease

General Information of Disease (ID: DISOM1K7)

• Disease Name: Congenital contractural arachnodactyly
• Synonyms: arthrogryposis, distal, type 9; DA9; contractures, multiple with arachnodactyly; arachnodactyly, contractural Beals type; Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis; contractural arachnodactyly, congenital; distal arthrogryposis type 9; CCA syndrome; CCA; Beals-Hecht syndrome; Beals syndrome
• Definition: Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DIS3QIEL: Distal arthrogryposis
  DISC81CM: Arthrogryposis
  DISME1TG: Marfan and Marfan-related disorder
  DISOM1K7: Congenital contractural arachnodactyly
• Disease Identifiers:
  MONDO ID: MONDO_0007363
  MESH ID: C536211
  UMLS CUI: C0220668
  OMIM ID: 121050
  MedGen ID: 67391
  Orphanet ID: 115
  SNOMED CT ID: 205821003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 42 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGXT	TTF5NVW	Limited	Posttranslational Modification	[1]
ANXA10	TT0NL6U	Limited	Biomarker	[2]
E2F2	TT5FYX0	Limited	Altered Expression	[3]
FGF10	TTNPEFX	Limited	Altered Expression	[4]
PBRM1	TTH8ZRL	Limited	Genetic Variation	[5]
PDX1	TT8SGZK	Limited	Altered Expression	[6]
PLA2G7	TTDNFMT	Limited	Altered Expression	[7]
PRKAR2B	TTW4Y2M	Limited	Altered Expression	[8]
RARG	TT1Q3IE	Limited	Biomarker	[9]
SLC15A1	TT5LF3C	Limited	Altered Expression	[10]
SLC7A11	TTBZMIO	Limited	Biomarker	[11]
CEACAM3	TTPX7I5	moderate	Biomarker	[12]
PSMD10	TT2H4LN	moderate	Biomarker	[13]
S1PR2	TTVSMOH	moderate	Altered Expression	[14]
APLNR	TTJ8E43	Strong	Altered Expression	[15]
ASPH	TT2KHP7	Strong	Altered Expression	[16]
CA14	TTEYTKG	Strong	Altered Expression	[17]
CCK	TT90CMU	Strong	Biomarker	[18]
CEACAM5	TTY6DTE	Strong	Biomarker	[19]
COL6A3	TT5WCAH	Strong	Biomarker	[20]
DNAJB1	TTPXAWS	Strong	Altered Expression	[21]
EED	TTFNJ4R	Strong	Biomarker	[22]
GADD45B	TTMDW9L	Strong	Biomarker	[23]
HDAC3	TT4YWTO	Strong	Altered Expression	[24]
HTATIP2	TTC6IX5	Strong	Posttranslational Modification	[25]
LASP1	TTZJA87	Strong	Biomarker	[26]
METAP2	TTZL0OI	Strong	Altered Expression	[27]
NR1H4	TTS4UGC	Strong	Altered Expression	[28]
PAK4	TT7Y3BZ	Strong	Altered Expression	[29]
PDF	TT9SL3Q	Strong	Biomarker	[30]
PDGFA	TTSM78N	Strong	Biomarker	[31]
PDGFD	TTSN0GA	Strong	Biomarker	[32]
PDK3	TTDEQIP	Strong	Biomarker	[33]
PPIA	TTL2ADK	Strong	Biomarker	[34]
PPP3CA	TTA4LDE	Strong	Altered Expression	[35]
PTK2B	TTTEFBV	Strong	Altered Expression	[36]
RAB7A	TTF6WAQ	Strong	Biomarker	[37]
RECK	TTRZBW7	Strong	Altered Expression	[38]
SLC29A1	TTLXAKE	Strong	Biomarker	[25]
SLC7A5	TTPH2JB	Strong	Altered Expression	[39]
TACC3	TTQ4UFD	Strong	Biomarker	[40]
TRIM59	TT613U4	Strong	Biomarker	[41]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A1	DTB0Q3P	Strong	Biomarker	[42]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NAT10	DEZV4AP	Limited	Biomarker	[12]
CES2	DETHCPD	Strong	Biomarker	[43]

This Disease Is Related to 89 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AGFG1	OTI8ZKC4	Limited	Biomarker	[44]
ATRNL1	OTY5JUX2	Limited	Biomarker	[12]
CDHR2	OTTHEUPO	Limited	Biomarker	[45]
CILK1	OTWOYEYP	Limited	Genetic Variation	[46]
CRYBB2	OTL0Z8E6	Limited	Biomarker	[47]
DCAF1	OT3ZDVOE	Limited	Biomarker	[44]
DNAJB5	OT7WDJ5C	Limited	Altered Expression	[48]
EFNA1	OTU2NUA2	Limited	Biomarker	[49]
EMP1	OTSZHUHQ	Limited	Altered Expression	[50]
ESD	OTUSIBPS	Limited	Biomarker	[51]
FBP1	OTQBANEP	Limited	Altered Expression	[52]
FILIP1L	OTPY8IMS	Limited	Altered Expression	[50]
GP2	OTB6TMGY	Limited	Biomarker	[53]
GTF2H4	OTPD1DIU	Limited	Biomarker	[54]
HGD	OTTKLQOO	Limited	Altered Expression	[55]
IL34	OTZ15VVK	Limited	Biomarker	[56]
MAML1	OTQA4DDN	Limited	Biomarker	[57]
MFAP5	OT46VXSG	Limited	Biomarker	[58]
OSCP1	OTZ4IFGJ	Limited	Biomarker	[59]
PDLIM3	OTVXQC81	Limited	Biomarker	[12]
RPAIN	OTBMXAYK	Limited	Biomarker	[44]
SALL3	OTJ2LZKQ	Limited	Biomarker	[60]
SETDB1	OTWVUA1B	Limited	Biomarker	[44]
TNFRSF10C	OTVHOL9B	Limited	Posttranslational Modification	[61]
CEACAM7	OTKFDTZY	moderate	Biomarker	[12]
FBN1	OTYCJT63	moderate	Genetic Variation	[62]
GDE1	OTU6FSBF	moderate	Altered Expression	[63]
KLHL1	OTAX6SAD	moderate	Altered Expression	[64]
PPFIBP2	OTXQO55Y	moderate	Biomarker	[65]
PSG2	OT2EIXAI	moderate	Biomarker	[12]
SELENOK	OTKM7N7P	moderate	Altered Expression	[66]
SYCE1L	OTXU44F3	moderate	Altered Expression	[64]
TNNI2	OTGGZFSC	moderate	Biomarker	[67]
ACTBL2	OTD6B81U	Strong	Genetic Variation	[68]
AFAP1	OTR473H8	Strong	Biomarker	[69]
AKIRIN2	OTQ6WSKW	Strong	Biomarker	[70]
ALDH1A3	OT1C9NKQ	Strong	Biomarker	[25]
BCL9	OTRBIPR4	Strong	Biomarker	[71]
CBX5	OT8VYY84	Strong	Biomarker	[72]
CCDC25	OTNC58MD	Strong	Biomarker	[73]
CLTC	OTBFASMA	Strong	Biomarker	[42]
CSNK2B	OT2WW7R1	Strong	Biomarker	[74]
CUL4B	OT2QX4DO	Strong	Altered Expression	[75]
DPY30	OTLHCJ6C	Strong	Altered Expression	[76]
EBF1	OTZ61YYH	Strong	Biomarker	[77]
ECM1	OT1K65VW	Strong	Altered Expression	[78]
ELAVL2	OT6EJ8MQ	Strong	Biomarker	[1]
ERO1A	OTVKOQWM	Strong	Biomarker	[79]
ETV4	OT8C98UZ	Strong	Altered Expression	[80]
GATA5	OTO81B63	Strong	Biomarker	[81]
GATA6	OTO2BC0F	Strong	Biomarker	[82]
HHEX	OTLIUVYX	Strong	Biomarker	[83]
HIF3A	OTPWAAMC	Strong	Biomarker	[84]
HOXD9	OTZ4GVR1	Strong	Biomarker	[85]
HSDL2	OT4IN0MV	Strong	Altered Expression	[86]
KLHL21	OT28Y2LQ	Strong	Biomarker	[87]
MACC1	OTV3DLX0	Strong	Altered Expression	[88]
MCM3AP	OT895FEC	Strong	Altered Expression	[89]
MORC2	OT52A8BJ	Strong	Biomarker	[90]
NEIL1	OTHBU5DJ	Strong	Genetic Variation	[91]
NUDT1	OTZSES3W	Strong	Biomarker	[91]
ONECUT1	OTK1QUQT	Strong	Biomarker	[92]
OPCML	OT93PQ6Y	Strong	Biomarker	[85]
ORM2	OTRJGZP8	Strong	Biomarker	[93]
OSBP2	OTDGLB4J	Strong	Biomarker	[94]
OSBPL7	OTUU2X2Q	Strong	Biomarker	[94]
OSBPL8	OTD50E5Y	Strong	Biomarker	[94]
PAK3	OT80M3BV	Strong	Genetic Variation	[95]
PI15	OTPJL6ML	Strong	Biomarker	[96]
PKD2	OTIXBU8H	Strong	Biomarker	[19]
PLK3	OT19CT2Z	Strong	Altered Expression	[97]
POTEM	OT7L2HGH	Strong	Genetic Variation	[68]
PRIMA1	OT9ITT3P	Strong	Biomarker	[98]
PRLH	OTJBP360	Strong	Biomarker	[83]
QRSL1	OTJDU2UG	Strong	Altered Expression	[82]
RAB7B	OT60A0E9	Strong	Biomarker	[37]
S100A2	OTTGHJ1H	Strong	Biomarker	[99]
SCP2	OTPAFCPQ	Strong	Biomarker	[100]
SEPTIN4	OTD16B30	Strong	Biomarker	[101]
SERPINB2	OT72QLZB	Strong	Biomarker	[102]
SETD1A	OTVVWRIC	Strong	Biomarker	[76]
SIRT7	OT5M4OT4	Strong	Altered Expression	[103]
SRRT	OTMYPSWV	Strong	Biomarker	[104]
TFF2	OTRXB19X	Strong	Biomarker	[105]
TMSB10	OTLVZ13T	Strong	Biomarker	[106]
TP53I3	OTSCM68G	Strong	Biomarker	[25]
TPD52	OTPKSK43	Strong	Altered Expression	[21]
TSPAN1	OTZQPIYK	Strong	Altered Expression	[107]
FBN2	OT3KYJQL	Definitive	Autosomal dominant	[108]

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