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Cabezas syndrome
1 OMIM reference -
1 associated gene
107 connected diseases
23 signs/symptoms
Disease Type of connection
Blackfan-Diamond anemia
Amyotrophic lateral sclerosis
Epidermolytic palmoplantar keratoderma
Extraskeletal myxoid chondrosarcoma
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
UV-sensitive syndrome
Annular epidermolytic ichthyosis
Dedifferentiated liposarcoma
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic ichthyosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Hypotrichosis simplex
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Localized epidermolysis bullosa simplex
Papillary or follicular thyroid carcinoma
Precursor T-cell acute lymphoblastic leukemia
Well-differentiated liposarcoma
Xeroderma pigmentosum complementation group E
17q11 microdeletion syndrome
Weaver syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Ear-patella-short stature syndrome
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Autosomal dominant macrothrombocytopenia
Autosomal recessive centronuclear myopathy
Autosomal recessive epidermolysis bullosa simplex
Autosomal recessive limb-girdle muscular dystrophy type 2J
COFS syndrome
Catecholaminergic polymorphic ventricular tachycardia
Cerebellar ataxia - hypogonadism
Combined oxidative phosphorylation defect type 4
Congenital reticular ichthyosiform erythroderma
Dehydratase deficiency
Dermatopathia pigmentosa reticularis
Desmoplastic small round cell tumor
Dowling-Degos disease
Early-onset myopathy with fatal cardiomyopathy
Ehlers-Danlos syndrome, kyphoscoliotic type
Epidermolysis bullosa simplex with circinate migratory erythema
Ewing sarcoma
Exfoliative ichthyosis
Extraskeletal Ewing sarcoma
Familial melanoma
Familial renal amyloidosis due to lysozyme variant
Familial thoracic aortic aneurysm and aortic dissection
Fanconi anemia
Frontotemporal dementia with motor neuron disease
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary proximal myopathy with early respiratory failure
Ichthyosis hystrix of Curth-Macklin
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Juvenile amyotrophic lateral sclerosis
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Melanoma of soft part
Moyamoya disease
Muscular dystrophy, Selcen type
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Myxoid / round cell liposarcoma
Naegeli-Franceschetti-Jadassohn syndrome
Naxos disease
Pachyonychia congenita
Pseudohypoaldosteronism type 2E
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Pure hair and nail ectodermal dysplasia
Spastic paraplegia-optic atrophy-neuropathy syndrome
Spinocerebellar ataxia type 26
Split hand-split foot malformation
Superficial epidermolytic ichthyosis
Tibial muscular dystrophy
White sponge nevus
Woolly hair
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Woodhouse-Sakati syndrome
Complete androgen insensitivity syndrome
Estrogen resistance syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
- X-linked intellectual deficit, Cabezas type

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
CUL4B Q13620300304
Very frequent
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

- Abnormal gait
- Blepharophimosis / short palpebral fissures
- Everted lower lip
- Generalized obesity
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pes cavus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short foot / brachydactyly of toes
- Short stature / dwarfism / nanism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Tremor
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wide space between 1st-2nd toes

- Acanthosis nigricans
- Hyperextensible joints / articular hyperlaxity
- Hyperhidrosis / increased sweating
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Syndactyly of toes