Details of Disease

General Information of Disease (ID: DISWMZIV)

• Disease Name: Noonan syndrome-like disorder with loose anagen hair
• Synonyms: NSLH; Noonan-like syndrome with loose anagen hair; NSLH1; Noonan syndrome-like disorder with loose anagen hair 1; Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Tosti syndrome
• Definition: Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DISTATYK: Noonan syndrome and Noonan-related syndrome
  DISJVGFD: Loose anagen syndrome
  DISWMZIV: Noonan syndrome-like disorder with loose anagen hair
• Disease Identifiers:
  MONDO ID: MONDO_0011899
  UMLS CUI: C1843181
  MedGen ID: 334697
  Orphanet ID: 2701
  SNOMED CT ID: 723444009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HRAS	TT28ZON	Disputed	Autosomal dominant	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HRAS	OTWQN0DP	Disputed	Autosomal dominant	[1]
PPP1CB	OTYFTYFR	Definitive	Autosomal dominant	[1]
SHOC2	OTUNQ2CT	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.