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Floating-Harbor syndrome
1 OMIM reference -
1 associated gene
43 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Kennedy disease
1 OMIM reference -
1 associated gene
12 signs/symptoms
Floating-Harbor syndrome
Kennedy disease

SRCAP
(UniProt - OMIM)
 AR
(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
SRCAP
Kennedy disease
AR



Floating-Harbor syndrome
Kennedy disease

Synonym(s):
- Leisti-Hollister-Rimoin syndrome
Synonym(s):
- Bulbospinal muscular atrophy
- SBMA
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
1 MeSH reference: C537062
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Floating-Harbor syndrome
Kennedy disease

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
- 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
- Abnormal gait
- Areflexia / hyporeflexia
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypotonia
- Impotence / painful erection / priapism / erection troubles
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- X-linked recessive inheritance

Occasional
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin-independent / type 2 diabetes
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia