ECO
MCID: END059
MIFTS: 36

Endocrine-Cerebroosteodysplasia (ECO)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Endocrine-Cerebroosteodysplasia

MalaCards integrated aliases for Endocrine-Cerebroosteodysplasia:

Name: Endocrine-Cerebroosteodysplasia 58 76 30 13 6 41 74
Endocrine-Cerebro-Osteodysplasia Syndrome 12 60 38 15
Eco Syndrome 12 60
Eco 58 76

Characteristics:

Orphanet epidemiological data:

60
endocrine-cerebro-osteodysplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
death in utero or as neonate


HPO:

33
endocrine-cerebroosteodysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Endocrine-Cerebroosteodysplasia

Disease Ontology : 12 A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has material basis in mutation in the gene encoding intestinal cell kinase (ICK).

MalaCards based summary : Endocrine-Cerebroosteodysplasia, also known as endocrine-cerebro-osteodysplasia syndrome, is related to chagas disease and leishmaniasis. An important gene associated with Endocrine-Cerebroosteodysplasia is ICK (Intestinal Cell Kinase). Affiliated tissues include skin, kidney and eye, and related phenotypes are malar flattening and low-set ears

UniProtKB/Swiss-Prot : 76 Endocrine-cerebroosteodysplasia: Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.

Description from OMIM: 612651

Related Diseases for Endocrine-Cerebroosteodysplasia

Diseases related to Endocrine-Cerebroosteodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 chagas disease 10.3
2 leishmaniasis 10.3
3 primary orthostatic tremor 10.2
4 malaria 10.2
5 visceral leishmaniasis 10.2
6 encephalitis 10.1
7 cutaneous leishmaniasis 10.1
8 leber congenital amaurosis 10.1
9 leptospirosis 10.1
10 pulmonary alveolar microlithiasis 10.0
11 filariasis 10.0
12 japanese encephalitis 10.0
13 blood group, colton system 9.9
14 carney complex, type 1 9.9
15 retinitis pigmentosa 9.9
16 acute insulin response 9.9
17 caronte 9.9
18 west nile virus 9.9
19 dengue disease 9.9
20 filarial elephantiasis 9.9
21 tularemia 9.9
22 avian influenza 9.9
23 influenza 9.9
24 dermatophytosis 9.9
25 mucocutaneous leishmaniasis 9.9
26 arteries, anomalies of 9.8
27 brachydactyly, type d 9.8
28 breast cancer 9.8
29 hepatocellular carcinoma 9.8
30 multiple sclerosis 9.8
31 renal cell carcinoma, nonpapillary 9.8
32 motion sickness 9.8
33 osteoporosis 9.8
34 platelet membrane fluidity 9.8
35 prostate cancer 9.8
36 rheumatoid arthritis 9.8
37 stiff-person syndrome 9.8
38 cystic fibrosis 9.8
39 schopf-schulz-passarge syndrome 9.8
40 bornholm eye disease 9.8
41 prostate cancer, hereditary, 8 9.8
42 cervical cancer 9.8
43 anorexia nervosa 9.8
44 prostate cancer, hereditary, 6 9.8
45 dengue virus 9.8
46 arthritis 9.8
47 pemphigus foliaceus 9.8
48 chikungunya 9.8
49 tick-borne encephalitis 9.8
50 primary amebic meningoencephalitis 9.8

Graphical network of the top 20 diseases related to Endocrine-Cerebroosteodysplasia:



Diseases related to Endocrine-Cerebroosteodysplasia

Symptoms & Phenotypes for Endocrine-Cerebroosteodysplasia

Human phenotypes related to Endocrine-Cerebroosteodysplasia:

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 low-set ears 33 HP:0000369
3 hydrocephalus 33 HP:0000238
4 wide nasal bridge 33 HP:0000431
5 cleft palate 33 HP:0000175
6 micrognathia 33 HP:0000347
7 micromelia 33 HP:0002983
8 cryptorchidism 33 HP:0000028
9 wide intermamillary distance 33 HP:0006610
10 shield chest 33 HP:0000914
11 abnormality of the pinna 33 HP:0000377
12 ventriculomegaly 33 HP:0002119
13 hypospadias 33 HP:0000047
14 brachydactyly 33 HP:0001156
15 sandal gap 33 HP:0001852
16 midface retrusion 33 HP:0011800
17 holoprosencephaly 33 HP:0001360
18 ambiguous genitalia 33 HP:0000062
19 cleft upper lip 33 HP:0000204
20 aplasia/hypoplasia of the corpus callosum 33 HP:0007370
21 micropenis 33 HP:0000054
22 scrotal hypoplasia 33 HP:0000046
23 depressed nasal tip 33 HP:0000437
24 adrenal hypoplasia 33 HP:0000835
25 barrel-shaped chest 33 HP:0001552
26 syndactyly 33 HP:0001159
27 ulnar deviation of the hand or of fingers of the hand 33 HP:0001193
28 polydactyly 33 HP:0010442
29 postaxial polydactyly 33 HP:0100259
30 microphallus 33 HP:0030260
31 ulnar deviation of the hand 33 HP:0009487

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
dysplastic ears

Head And Neck Nose:
wide nasal bridge
flattened nasal tip

Head And Neck Face:
micrognathia
midface hypoplasia
excess skin below skin

Skeletal Limbs:
micromelia
shortened upper limbs
bowing of the forearms
widened proximal metaphyses of the femur and tibia

Skeletal Hands:
brachydactyly
syndactyly
preaxial polydactyly
postaxial polydactyly
ulnar deviation of the hands

Chest Breasts:
widely spaced nipples

Endocrine Features:
hypoplastic adrenal glands
hypoplastic pituitary gland

Respiratory Larynx:
hypoplastic or absent epiglottis
hypoplastic or absent larynx

Genitourinary External Genitalia Female:
sex reversal with hypoplastic labial folds

Skeletal Pelvis:
hip abduction

Neurologic Central Nervous System:
hydrocephalus
ventriculomegaly
holoprosencephaly
pituitary agenesis
hypoplastic or absent corpus callosum
more
Head And Neck Mouth:
cleft palate
cleft lip

Chest External Features:
narrow chest
broad chest

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
ambiguous genitalia
hypoplastic scrotum
microphallus

Genitourinary Kidneys:
hyperechogenic kidneys
large kidneys
dilated cystic tubules

Head And Neck Teeth:
natal teeth

Head And Neck Eyes:
small, sunken eyes
fused eyelids (in some patients)

Genitourinary:
unfused urogenital folds

Genitourinary Bladder:
squamous metaplasia of bladder (uncommon)

Skeletal Feet:
sandal gap between first and second toes

Clinical features from OMIM:

612651

MGI Mouse Phenotypes related to Endocrine-Cerebroosteodysplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 ICK SHH
2 limbs/digits/tail MP:0005371 8.62 ICK SHH

Drugs & Therapeutics for Endocrine-Cerebroosteodysplasia

Search Clinical Trials , NIH Clinical Center for Endocrine-Cerebroosteodysplasia

Genetic Tests for Endocrine-Cerebroosteodysplasia

Genetic tests related to Endocrine-Cerebroosteodysplasia:

# Genetic test Affiliating Genes
1 Endocrine-Cerebroosteodysplasia 30 ICK

Anatomical Context for Endocrine-Cerebroosteodysplasia

MalaCards organs/tissues related to Endocrine-Cerebroosteodysplasia:

42
Skin, Kidney, Eye, Pituitary, Prostate, Bone, Adrenal Gland

Publications for Endocrine-Cerebroosteodysplasia

Articles related to Endocrine-Cerebroosteodysplasia:

# Title Authors Year
1
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. ( 27069622 )
2016
2
Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling. ( 24853502 )
2014
3
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. ( 19185282 )
2009

Variations for Endocrine-Cerebroosteodysplasia

UniProtKB/Swiss-Prot genetic disease variations for Endocrine-Cerebroosteodysplasia:

76
# Symbol AA change Variation ID SNP ID
1 ICK p.Arg272Gln VAR_057994 rs118203918

ClinVar genetic disease variations for Endocrine-Cerebroosteodysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ICK NM_016513.4(ICK): c.815G> A (p.Arg272Gln) single nucleotide variant Pathogenic rs118203918 GRCh37 Chromosome 6, 52880897: 52880897
2 ICK NM_016513.4(ICK): c.815G> A (p.Arg272Gln) single nucleotide variant Pathogenic rs118203918 GRCh38 Chromosome 6, 53016099: 53016099
3 ICK NM_016513.4(ICK): c.358G> T (p.Gly120Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 53031065: 53031065
4 ICK NM_016513.4(ICK): c.358G> T (p.Gly120Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 52895863: 52895863

Expression for Endocrine-Cerebroosteodysplasia

Search GEO for disease gene expression data for Endocrine-Cerebroosteodysplasia.

Pathways for Endocrine-Cerebroosteodysplasia

GO Terms for Endocrine-Cerebroosteodysplasia

Biological processes related to Endocrine-Cerebroosteodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.96 ICK SHH
2 regulation of gene expression GO:0010468 8.62 ICK SHH

Sources for Endocrine-Cerebroosteodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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