ECO
MCID: END059
MIFTS: 36

Endocrine-Cerebroosteodysplasia (ECO)

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

Aliases & Classifications for Endocrine-Cerebroosteodysplasia

MalaCards integrated aliases for Endocrine-Cerebroosteodysplasia:

Name: Endocrine-Cerebroosteodysplasia 57 74 29 13 6 40 72
Endocrine-Cerebro-Osteodysplasia Syndrome 12 59 37 15
Eco Syndrome 12 59
Eco 57 74

Characteristics:

Orphanet epidemiological data:

59
endocrine-cerebro-osteodysplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in utero or as neonate


HPO:

32
endocrine-cerebroosteodysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060641
OMIM 57 612651
KEGG 37 H00972
ICD10 33 Q87.8
ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA199332
MedGen 42 C2675227
UMLS 72 C2675227

Summaries for Endocrine-Cerebroosteodysplasia

KEGG : 37
Endocrine-cerebro-osteodysplasia syndrome is a neonatal lethal recessive disorder found in an Old Order Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia. A missense mutation in ICK encoding intestinal cell kinase have been reported in the disease.

MalaCards based summary : Endocrine-Cerebroosteodysplasia, also known as endocrine-cerebro-osteodysplasia syndrome, is related to hydrolethalus syndrome 1 and kala-azar 1. An important gene associated with Endocrine-Cerebroosteodysplasia is ICK (Intestinal Cell Kinase). Affiliated tissues include skin, kidney and pituitary, and related phenotypes are malar flattening and low-set ears

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.

UniProtKB/Swiss-Prot : 74 Endocrine-cerebroosteodysplasia: Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.

More information 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 166)
# Related Disease Score Top Affiliating Genes
1 hydrolethalus syndrome 1 29.3 SHH ICK
2 kala-azar 1 10.5
3 leishmaniasis 10.5
4 cutaneous leishmaniasis 10.4
5 chagas disease 10.4
6 cleft palate, isolated 10.3
7 hydrocephalus 10.3
8 congenital hydrocephalus 10.3
9 ciliopathy 10.3
10 filariasis 10.3
11 japanese encephalitis 10.3
12 visceral leishmaniasis 10.3
13 pulmonary alveolar microlithiasis 10.3
14 chikungunya 10.3
15 encephalitis 10.3
16 mastitis 10.2
17 plague 10.2
18 malaria 10.2
19 filarial elephantiasis 10.2
20 mucocutaneous leishmaniasis 10.2
21 west nile virus 10.1
22 helix syndrome 10.1
23 dengue disease 10.1
24 leptospirosis 10.1
25 hair whorl 10.0
26 schistosoma mansoni infection, susceptibility/ 10.0
27 schopf-schulz-passarge syndrome 10.0
28 immunodeficiency, common variable, 10 10.0
29 schistosomiasis 10.0
30 posttransplant acute limbic encephalitis 10.0
31 rapidly involuting congenital hemangioma 10.0
32 hepatocellular carcinoma 10.0
33 papillomatosis, confluent and reticulated 10.0
34 triiodothyronine receptor auxiliary protein 10.0
35 methane production 10.0
36 epidemic typhus 10.0
37 lyme disease 10.0
38 paracoccidioidomycosis 10.0
39 relapsing fever 10.0
40 diarrhea 10.0
41 klebsiella pneumonia 10.0
42 impotence 10.0
43 cerebral palsy 10.0
44 tularemia 10.0
45 tick infestation 10.0
46 avian influenza 10.0
47 anthrax disease 10.0
48 dermatophytosis 10.0
49 alcohol dependence 9.8
50 arteries, anomalies of 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:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 low-set ears 32 HP:0000369
3 hydrocephalus 32 HP:0000238
4 wide nasal bridge 32 HP:0000431
5 cleft palate 32 HP:0000175
6 micrognathia 32 HP:0000347
7 micromelia 32 HP:0002983
8 cryptorchidism 32 HP:0000028
9 wide intermamillary distance 32 HP:0006610
10 shield chest 32 HP:0000914
11 abnormality of the pinna 32 HP:0000377
12 ventriculomegaly 32 HP:0002119
13 hypospadias 32 HP:0000047
14 micropenis 32 HP:0000054
15 cleft upper lip 32 HP:0000204
16 brachydactyly 32 HP:0001156
17 holoprosencephaly 32 HP:0001360
18 sandal gap 32 HP:0001852
19 midface retrusion 32 HP:0011800
20 ambiguous genitalia 32 HP:0000062
21 aplasia/hypoplasia of the corpus callosum 32 HP:0007370
22 scrotal hypoplasia 32 HP:0000046
23 depressed nasal tip 32 HP:0000437
24 adrenal hypoplasia 32 HP:0000835
25 barrel-shaped chest 32 HP:0001552
26 syndactyly 32 HP:0001159
27 polydactyly 32 HP:0010442
28 ulnar deviation of the hand 32 HP:0009487
29 ulnar deviation of the hand or of fingers of the hand 32 HP:0001193
30 postaxial polydactyly 32 HP:0100259
31 microphallus 32 HP:0030260

Symptoms via clinical synopsis from OMIM:

57
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
microphallus
hypoplastic scrotum

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:

46
# 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 29 ICK

Anatomical Context for Endocrine-Cerebroosteodysplasia

MalaCards organs/tissues related to Endocrine-Cerebroosteodysplasia:

41
Skin, Kidney, Pituitary, Bone, Eye, Adrenal Gland

Publications for Endocrine-Cerebroosteodysplasia

Articles related to Endocrine-Cerebroosteodysplasia:

# Title Authors PMID Year
1
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. 38 8 71
27069622 2016
2
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. 8 71
19185282 2009
3
Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice. 38
29635032 2018
4
Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling. 38
24853502 2014

Variations for Endocrine-Cerebroosteodysplasia

ClinVar genetic disease variations for Endocrine-Cerebroosteodysplasia:

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

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

74
# Symbol AA change Variation ID SNP ID
1 ICK p.Arg272Gln VAR_057994 rs118203918

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 SHH ICK
2 regulation of gene expression GO:0010468 8.62 SHH ICK

Sources for Endocrine-Cerebroosteodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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