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Floating-Harbor syndrome

1 OMIM reference -
1 associated gene
43 signs/symptoms

PROTEIN INTERACTIONS: 1

Complete androgen insensitivity syndrome

2 OMIM references -
1 associated gene
14 signs/symptoms

Floating-Harbor syndrome

Complete androgen insensitivity syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SRCAP	(0.63)	AR

Citations in the biomedical literature:

Floating-Harbor syndrome		Complete androgen insensitivity syndrome
	Synonym(s): - Leisti-Hollister-Rimoin syndrome		Synonym(s): - CAIS - Complete androgen resistance syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537062		External references: 2 OMIM references - No MeSH references

Floating-Harbor syndrome		Complete androgen insensitivity syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Broad nasal root - Broad / bifid thumb - Delayed bone age - Long / large / bulbous nose - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrostomia / big mouth - Restricted joint mobility / joint stiffness / ankylosis - Short neck - Short philtrum - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thick columella - Thin / retracted lips Frequent - Camptodactyly of some fingers - Clavicle absent / abnormal - Clinodactyly of fifth finger - Constipation - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Hirsutism / hypertrichosis / Increased body hair - Hyperextensible joints / articular hyperlaxity - Immobile soft palate / soft palate anomaly - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Joint dislocation / subluxation - Malabsorption / chronic diarrhea / steatorrhea - Short hand / brachydactyly - Thin / hypoplastic ala nasi - Triangular face Occasional - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Hyperactivity / attention deficit - Micropenis / small penis / agenesis - Motor deficit / trouble - Strabismus / squint - Telecanthus / canthal dystopy - Thin / hypoplastic / hyperconvex fingernails - Trigonocephaly - Urethral anomalies / stenosis / posterior urethral valves / megalocystis		Very frequent - Decreased body hair / axillar / pubic hairlessness - Male pseudohermaphrodism / lack of virilisation - Primary amenorrhea - Sterility / hypofertility - Tall stature / gigantism / growth acceleration - Undescended / ectopic testes / cryptorchidia / unfixed testes - Uterine / uterus / Fallopian tubes anomalies Frequent - Inguinal / inguinoscrotal / crural hernia - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Sensitive trouble / deficit - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Tremor