Gene Summary

Name:
huntingtin-associated protein 1
Synonyms:
HAP-1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Hap1tm1b(KOMP)Wtsi HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Section images heterozygote Ambiguous
Large intestine  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 0.0% (0 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Hap1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hap1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leptin Receptor Deficiency
Polyphagia, Abnormal hypothalamus morphology, Pituitary hypothyroidism, Abnormal eating behavior,... OMIM:614963
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Chronic Hiccup
Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism, Short stature, Dry skin OMIM:275120
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Postnatal growth retardation, Decreased body weight, Edema, Short stature, Microcephaly, Dry skin OMIM:612947
Dystonia 30
Hypothalamic hamartoma, Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility... OMIM:619291
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Microcephaly, Dry skin ORPHA:2271
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy, Progressive leukoencephalopathy, Periventricular leukomala... OMIM:615889
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Intrauterine growth reta... ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Dehydration, Intrauterine growth ... OMIM:601410
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Failure to thrive ORPHA:79283
Immunodeficiency 55
Postnatal growth retardation, Short stature, Intrauterine growth retardation, Microcephaly, Dry skin OMIM:617827
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Redundant skin, Neonatal death OMIM:301021
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Redundant skin, Cutis laxa, Increased number of skin folds ORPHA:436274
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Growth delay, Impaired sensitivity to thyroid hormone, Congenital hypothyr... OMIM:614450
Retinitis Pigmentosa 42
Pallor OMIM:612943
Erythrokeratodermia Variabilis
Weight loss, Erythema, Short stature, Microcephaly, Diabetes mellitus, Dry skin ORPHA:317
Craniopharyngioma
Polyphagia, Abnormal hypothalamus morphology, Proportionate short stature, Enlarged pituitary gla... ORPHA:54595
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Weight loss, Dehydration, Failure to thrive, Skin ulcer ORPHA:33355
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Craniosynostosis-Mental Retardation-Clefting Syndrome
Microcephaly, Dry skin OMIM:218650
Primary Lateral Sclerosis, Juvenile
Dysphagia, Cerebral cortical atrophy, Pallor OMIM:606353
Retinohepatoendocrinologic Syndrome
Hypothyroidism, Maturity-onset diabetes of the young, Pallor OMIM:268040
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsu... ORPHA:324575
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Dehydration, Failure to thrive, Intrauterine growth retardation, Microcephaly OMIM:618958
Riddle Syndrome
Microcephaly, Short stature, Dry skin OMIM:611943
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrophy, Hypoplasia of t... ORPHA:2822
Aicardi-Goutieres Syndrome 5
Scaling skin, Basal ganglia calcification, Leukoencephalopathy, Microcephaly, Deep white matter h... OMIM:612952
Diarrhea 4, Malabsorptive, Congenital
Dehydration, Failure to thrive OMIM:610370
Retinitis Pigmentosa 60
Pallor OMIM:613983
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse pancreatic islet hyperplasia... ORPHA:276575
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Ascites, Microcephaly, Dry skin OMIM:610965
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse pancreati... ORPHA:276580
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Ichthyosis Vulgaris
Dry skin OMIM:146700
Retinitis Pigmentosa 81
Pallor OMIM:617871
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Smal... OMIM:619057
Central Diabetes Insipidus
Weight loss, Dehydration, Failure to thrive, Diabetes insipidus, Polydipsia ORPHA:178029
Ataxia-Photosensitivity-Short Stature Syndrome
Short stature, Dry skin ORPHA:1184
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Hypoplasia of the corpus callosum, Dysphagia, Cerebral atrophy, Neurodegeneration, Decreased body... OMIM:617672
Combined Malonic And Methylmalonic Aciduria
Dehydration, Failure to thrive OMIM:614265
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa ORPHA:91135
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Edema, Failure to thrive OMIM:616069
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:610951
Granulomatous Slack Skin
Redundant skin, Cutis laxa, Erythema ORPHA:33111
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Partial agenesis of the corpus callosum ORPHA:2101
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Dry skin, Type II diabetes mellitus, Short stat... ORPHA:3085
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Redundant neck skin, Edema, Agenesis of corpus callosum OMIM:610498
Optic Atrophy 9
Pallor OMIM:616289
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Hyperextensible skin OMIM:615937
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperplasia, Large for gestat... ORPHA:276556
Menkes Disease
Intrauterine growth retardation, Microcephaly, Cutis laxa, Short stature OMIM:309400
Amyloidosis, Primary Localized Cutaneous, 1
Cutis laxa, Scaling skin, Dry skin OMIM:105250
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Obesity OMIM:614962
Familial Cold Urticaria
Dehydration, Polydipsia, Erythema ORPHA:47045
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Sjögren-Larsson Syndrome
Microcephaly, Dry skin, Short stature, Erythema ORPHA:816
Trichothiodystrophy 6, Nonphotosensitive
Mild intrauterine growth retardation, Small for gestational age, Short stature, Microcephaly, Dry... OMIM:616943
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dry skin, Erythema ORPHA:495
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa, Ascites OMIM:301045
Congenital Disorder Of Glycosylation, Type If
Cerebral atrophy, Scaling skin, Failure to thrive, Microcephaly, Dry skin OMIM:609180
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Decreased circulating T4 level, Growth delay, Pituitary hypothyroidism, Decreased cir... ORPHA:99832
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi... OMIM:619072
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Increased body weight, Pallor, Pancreatic islet-... ORPHA:276608
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Peripheral Cone Dystrophy
Pallor OMIM:609021
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Dry skin, Palmoplantar scaling skin, Scaling skin, Erythema ORPHA:530838
Classic Mycosis Fungoides
Dry skin, Edema, Skin ulcer, Erythema ORPHA:2584
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Dry skin OMIM:212360
Cutis Laxa, Autosomal Recessive, Type Iib
Redundant skin, Failure to thrive, Intrauterine growth retardation, Microcephaly, Agenesis of cor... OMIM:612940
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Congenital Lethal Erythroderma
Failure to thrive, Dry skin ORPHA:1954
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hypointensity of cerebral white matter on MRI, Increased body weight, Dry skin OMIM:300860
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Small for gestational age, Diabetic ketoac... OMIM:262190
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Dermoodontodysplasia
Dry skin OMIM:125640
Phenylketonuria
Microcephaly, Cerebral calcification, Dry skin OMIM:261600
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin ORPHA:1779
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Agenesis of corpus callosum, Absent septum pellucidum, Anterior pituitary hypo... ORPHA:3157
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 level, Abnormality of thyroid physiology, Reduced radioactive iodine upt... ORPHA:95715
Combined Malonic And Methylmalonic Acidemia
Microcephaly, Dehydration, Failure to thrive ORPHA:289504
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Decreased body weight, Shor... ORPHA:314621
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Acquired Ichthyosis
Dry skin, Erythema ORPHA:454
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Proportionate short stature, In... ORPHA:759
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Growth delay, Increased circulating renin level, Dehy... OMIM:610600
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Absent pubertal growth spurt, Cerebellar atrophy, Short stature, Microcephaly ORPHA:438134
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Dry skin OMIM:255900
Amyloidosis, Finnish Type
Cutis laxa OMIM:105120
Thyroid Dyshormonogenesis 1
Hypothyroidism, Growth delay, Goiter, Dry skin OMIM:274400
Congenital Heart Defects And Ectodermal Dysplasia
Microcephaly, Dry skin OMIM:617364
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Short stature, Dry skin ORPHA:1035
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa, Postnatal growth retardation, Intrauterine growth retardati... OMIM:616603
Bone Marrow Failure Syndrome 4
Microcephaly, Short stature, Rhizomelia, Dry skin OMIM:618116
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Growth delay, Short stature, Microcephaly, Dry skin ORPHA:177
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Hyperextensible skin, Decreased body weight OMIM:615349
Macs Syndrome
Palpebral edema, Hypergonadotropic hypogonadism, Redundant skin, Cutis laxa, Decreased body weigh... OMIM:613075
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration, Failure to thrive OMIM:143860
Huriez Syndrome
Lack of skin elasticity, Dry skin ORPHA:384
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Cutis laxa, Short stature, Postnatal growth retardation OMIM:614800
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Overweight, Abnormal elasticity of skin, Dry skin ORPHA:486815
Combined Oxidative Phosphorylation Deficiency 5
Hypoplasia of the corpus callosum, Growth delay, Redundant neck skin, Edema, Ascites, Leukoenceph... OMIM:611719
Ddost-Cdg
Failure to thrive, Short stature, Primary hypothyroidism, Dry skin ORPHA:300536
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Polymicrogyria, Pallor, Focal cortical dysplasia ORPHA:98820
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Scaling skin, Dry skin ORPHA:2269
Man1B1-Cdg
Truncal obesity, Cutis laxa, Polyphagia ORPHA:397941
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Cerebral atrophy, Insulin-resistant diabetes mellitus, Short stat... OMIM:268020
Periodontal Ehlers-Danlos Syndrome
Short stature, Hyperextensible skin ORPHA:75392
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Microcephalic Primordial Dwarfism, Montreal Type
Microcephaly, Severe short stature, Dry skin ORPHA:2617
Lamellar Ichthyosis
Lack of skin elasticity, Dehydration, Short stature, Dry skin ORPHA:313
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Hydranencephaly, Abnormalit... ORPHA:2570
Autosomal Dominant Cutis Laxa
Redundant skin, Cutis laxa, Premature skin wrinkling ORPHA:90348
Progeroid Syndrome, Petty Type
Redundant skin, Cutis laxa, Short stature, Failure to thrive, Intrauterine growth retardation ORPHA:2963
Myoclonus, Intractable, Neonatal
Dysphagia, Microcephaly, Progressive leukoencephalopathy, Pallor OMIM:617235
Chromosome 18P Deletion Syndrome
Redundant neck skin, Small for gestational age, Short stature OMIM:146390
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Increased circulating renin level, Postnatal growth retardation,... ORPHA:556030
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Pachygyria, Thick cerebral cortex, Redundant skin, Cutis laxa, Postnatal growth retardation, Intr... ORPHA:357074
Jung Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hypothyroidism, Dry skin ORPHA:2321
Optic Atrophy 1
Pallor OMIM:165500
Cutis Laxa, Autosomal Recessive, Type Iia
Pachygyria, Redundant skin, Cutis laxa, Polymicrogyria, Failure to thrive, Intrauterine growth re... OMIM:219200
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Failure to thrive ORPHA:28
Retinitis Pigmentosa 70
Pallor OMIM:615922
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Scaling skin, Small for gestational age, Short st... OMIM:618419
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin ORPHA:35664
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Growth delay, Scaling skin, Erythema, Microcephaly, Dry skin OMIM:614457
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcephaly, Delayed puberty, Pallor, Failure to thrive OMIM:600462
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa OMIM:614100
Diarrhea 2, With Microvillus Atrophy
Dehydration, Growth delay OMIM:251850
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ce... ORPHA:439218
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Pallor, Growth delay OMIM:615234
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Leukoencephalopathy OMIM:613724
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Gilbert Syndrome
Dehydration OMIM:143500
Bachmann-Bupp Syndrome
Polyhydramnios, Focal polymicrogyria, Cerebral calcification, Large for gestational age, Perivent... OMIM:619075
Diaminopentanuria
Neurodegeneration OMIM:222350
Squalene Synthase Deficiency
Hypoplasia of the corpus callosum, Failure to thrive in infancy, Polymicrogyria, Intrauterine gro... OMIM:618156
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Hypoplasia of the corpus callosum, Growth delay, Cerebral atrophy, Abnormal cortic... OMIM:614576
Cystinosis
Nephrogenic diabetes insipidus, Hypothyroidism, Delayed puberty, Dehydration, Type I diabetes mel... ORPHA:213
Adrenal Hypoplasia, Congenital
Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal insufficiency, Absence ... OMIM:300200
Thanatophoric Dysplasia
Polyhydramnios, Redundant skin, Increased nuchal translucency, Intrauterine growth retardation, D... ORPHA:2655
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldosteronism, Dehy... OMIM:177735
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Increased circulating renin level, Dehydration, Decreased circulating aldosterone l... OMIM:203400
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Congenital Disorder Of Glycosylation, Type Iq
Polymicrogyria, Cutis laxa OMIM:612379
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyperaldosteronism, Dehydration, Failure to thrive, Pseudoh... OMIM:264350
Recessive X-Linked Ichthyosis
Dry skin ORPHA:461
Beta-Ketothiolase Deficiency
Oral aversion, Weight loss, Dehydration, Edema, Pallor ORPHA:134
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Hypothyroidism, Decreased body weight, Short stature, Int... OMIM:609053
Breath-Holding Spells
Pallor OMIM:607578
Oculotrichodysplasia
Scaling skin, Dry skin OMIM:257960
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cutis laxa, Short stature, Hyperextensible skin, Growth delay ORPHA:75496
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Radio-Tartaglia Syndrome
Agenesis of corpus callosum, Dysphagia, Obesity, Striae distensae, Microcephaly, Precocious puber... OMIM:619312
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin OMIM:617066
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Complex Regional Pain Syndrome
Edema of the upper limbs, Dry skin, Pedal edema, Erythema ORPHA:83452
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hyperextensible skin, Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
Secondary Short Bowel Syndrome
Polyphagia, Growth delay, Central hypothyroidism, Weight loss, Dehydration, Primary hypothyroidis... ORPHA:95427
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:300894
Alg11-Cdg
Cerebral white matter atrophy, Abnormal cerebral white matter morphology, Cerebral atrophy, Failu... ORPHA:280071
Retinitis Pigmentosa 73
Pallor OMIM:616544
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Hypercalcemia, Infantile, 1
Dehydration, Failure to thrive, Weight loss OMIM:143880
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Cyclic Vomiting Syndrome
Microcephaly, Growth delay, Pallor OMIM:500007
Omenn Syndrome
Thyroiditis, Hypothyroidism, Edema, Failure to thrive, Dry skin ORPHA:39041
Spontaneous Periodic Hypothermia
Pallor, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Cerebral atrophy, Pallor OMIM:613839
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Weight loss, Increased circulating renin level, Glucocortocoid-insen... ORPHA:171876
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration, Failure to thrive, Growth delay OMIM:602722
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Pallor, Short stature ORPHA:49827
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Thanatophoric Dysplasia Type 2
Polyhydramnios, Redundant skin, Increased nuchal translucency, Short stature ORPHA:93274
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Dehydration, Failure to thrive, Microcephaly, Lissencephaly OMIM:208085
Noonan Syndrome 5
Polyhydramnios, Large for gestational age, Short stature, Dry skin OMIM:611553
9P13 Microdeletion Syndrome
Precocious puberty, Short stature, Dry skin ORPHA:324313
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Leopard Syndrome 2
Short stature, Dry skin OMIM:611554
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
6P22 Microdeletion Syndrome
Redundant skin ORPHA:251046
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Neonatal death, Redundant neck skin, Nonimmune hydrops fetalis OMIM:619003
Ehlers-Danlos Syndrome, Classic Type, 2
Soft, doughy skin, Soft skin, Hyperextensible skin OMIM:130010
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema, Weight loss ORPHA:103910
Dermoodontodysplasia
Dry skin ORPHA:1660
Weaver Syndrome
Redundant skin ORPHA:3447
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
19Q13.11 Microdeletion Syndrome
Growth delay, Cachexia, Failure to thrive, Intrauterine growth retardation, Microcephaly, Dry skin ORPHA:217346
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Hypoplasia of the corpus callosum, Redundant skin, Megalencephaly... OMIM:616482
Adiposis Dolorosa
Obesity, Hypothyroidism, Xerostomia, Dry skin ORPHA:36397
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:91355
Diabetes Insipidus, Nephrogenic, X-Linked
Hypertonic dehydration, Short stature, Failure to thrive, Diabetes insipidus, Polydipsia OMIM:304800
Xeroderma Pigmentosum Variant
Dry skin ORPHA:90342
Myopathic Ehlers-Danlos Syndrome
Hyperextensible skin, Pallor, Failure to thrive, Soft skin ORPHA:536516
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypertonic dehydration, Short stature, Failure to thrive, Polydipsia OMIM:125800
Costello Syndrome
Polyhydramnios, Redundant skin, Failure to thrive in infancy, Cerebral cortical atrophy, Short st... ORPHA:3071
Acral Self-Healing Collodion Baby
Edema of the dorsum of hands, Palmoplantar scaling skin, Erythema, Edema of the dorsum of feet, L... ORPHA:281127
Cranioectodermal Dysplasia 4
Cutis laxa, Short stature OMIM:614378
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Diabetes mellitus, Type I diabetes mellitus, Failure to thrive OMIM:560000
Cutis Laxa-Marfanoid Syndrome
Redundant skin ORPHA:171719
Chromosome 19Q13.11 Deletion Syndrome, Distal
Growth delay, Postnatal growth retardation, Short stature, Failure to thrive, Intrauterine growth... OMIM:613026
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Spastic Paraplegia 35, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Neurodegener... OMIM:612319
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Abnormal globus pallidus morphology, Failure to thrive, Dehydration OMIM:251000
Kohlschutter-Tonz Syndrome-Like
Overweight, Oligohydramnios, Dysphagia, Decreased body weight, Obesity, Intrauterine growth retar... OMIM:619229
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Failure to thrive ORPHA:79312
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased circulating androgen concentration, Insulin-resistant diabetes mellitus... ORPHA:769
Distal Trisomy 6P
Intrauterine growth retardation, Short stature, Dry skin ORPHA:1745
X-Linked Creatine Transporter Deficiency
Microcephaly, Redundant skin, Cachexia, Short stature ORPHA:52503
Familial Melanoma
Dry skin ORPHA:618
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Ogden Syndrome
Cutis laxa, Cerebral atrophy, Postnatal growth retardation ORPHA:276432
Acrodermatitis Enteropathica
Weight loss, Erythema, Cerebral cortical atrophy, Failure to thrive, Short stature, Skin ulcer, D... ORPHA:37
Methylmalonyl-Coa Epimerase Deficiency
Dehydration, Failure to thrive OMIM:251120
Netherton Syndrome
Dehydration, Short stature, Dry skin ORPHA:634
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, Encephalomalacia, Ab... ORPHA:68
Neurodegeneration With Brain Iron Accumulation 6
Hypoplasia of the corpus callosum, Neurodegeneration OMIM:615643
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, Decreased circulating ... ORPHA:95409
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Fumarase Deficiency
Open operculum, Cerebral atrophy, Polymicrogyria, Failure to thrive, Microcephaly, Pallor, Agenes... OMIM:606812
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteronism, Dehydrati... OMIM:214700
Leopard Syndrome 3
Growth delay, Short stature, Dry skin OMIM:613707
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Growth delay, Failure to thrive, Dry skin OMIM:617388
Ehlers-Danlos Syndrome, Classic-Like, 2
Redundant skin, Hyperextensible skin OMIM:618000
Cutis Laxa, Autosomal Recessive, Type Iiia
Intrauterine growth retardation, Severe short stature, Cutis laxa, Failure to thrive OMIM:219150
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Neoplasm of the thyroid gland, Hyper... ORPHA:457059
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Adrenal calcification, Primary adrenal insufficiency,... ORPHA:85138
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Oligohydramnios, Neonatal death, Redundant neck skin, Hydranencephaly OMIM:236500
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Agenesis of corpus ... OMIM:617542
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature, Failure to thrive OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Pallor, Short stature OMIM:615631
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95512
Propionic Acidemia
Dehydration, Cerebral atrophy, Short stature, Failure to thrive OMIM:606054
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Postnatal growth retardation OMIM:600546
Noonan Syndrome 13
Lymphedema, Cavum septum pellucidum, Microcephaly, Dry skin OMIM:619087
Wolcott-Rallison Syndrome
Hypothyroidism, Growth delay, Central hypothyroidism, Decreased body weight, Dehydration, Neonata... ORPHA:1667
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Cutis Laxa, Autosomal Recessive, Type Iiib
Cutis laxa, Excessive wrinkled skin, Dermal translucency OMIM:614438
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Cutis laxa OMIM:610842
Cutis Laxa, Autosomal Dominant 1
Redundant skin OMIM:123700
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Pallor, Weight loss ORPHA:3226
C Syndrome
Microcephaly, Cutis laxa, Short stature, Failure to thrive OMIM:211750
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin OMIM:618535
Cryptosporidiosis
Dysphagia, Growth delay, Weight loss, Dehydration, Failure to thrive ORPHA:1549
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Oligohydramnios, Hypoplasia of the corpus callosum, Scaling skin, Short stature, Microcephaly, Dr... OMIM:308205
Cardiac Valvular Dysplasia, X-Linked
Cutis laxa OMIM:314400
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin OMIM:618527
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Non-Functioning Paraganglioma
Paraganglioma, Paraganglioma of head and neck, Weight loss, Pallor ORPHA:94080
Leishmaniasis
Weight loss, Pallor, Skin ulcer ORPHA:507
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Striae distensae, Hyperextensible skin OMIM:130020
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Polyhydramnios, Cutis laxa OMIM:270420
Glucose/Galactose Malabsorption
Hypertonic dehydration, Failure to thrive OMIM:606824
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Increased body weight, Large for gestational age... ORPHA:263455
Rin2 Syndrome
Hypergonadotropic hypogonadism, Redundant skin, Hyperextensible skin, Upper eyelid edema ORPHA:217335
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Cerebral atrophy, Neurodegeneration, Postnatal gro... ORPHA:309246
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Dehydration, Edema, Leukoencephalopathy, Microcephaly, Pallor ORPHA:20
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Ogden Syndrome
Facial wrinkling, Redundant skin, Cutis laxa, Cerebral atrophy, Postnatal growth retardation, Sho... OMIM:300855
Enteric Anendocrinosis
Dehydration, Type I diabetes mellitus ORPHA:83620
De Barsy Syndrome
Dermal translucency, Cutis laxa, Postnatal growth retardation, Intrauterine growth retardation, A... ORPHA:2962
Immunodeficiency 49
Cutis laxa OMIM:617237
Oral Erosive Lichen
Dry skin, Erythema ORPHA:31142
Sézary Syndrome
Edema, Dry skin ORPHA:3162
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Axonal degeneration, Neurodegeneration OMIM:615157
Krabbe Disease
Diffuse cerebral atrophy, Failure to thrive, Neurodegeneration OMIM:245200
Thanatophoric Dysplasia Type 1
Polyhydramnios, Lethal short-limbed short stature, Redundant skin, Increased nuchal translucency,... ORPHA:1860
Trichorhinophalangeal Syndrome Type 2
Microcephaly, Growth delay, Redundant skin, Short stature ORPHA:502
Autosomal Agammaglobulinemia
Dehydration, Failure to thrive ORPHA:33110
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Hypoplasia of the corpus callosum, Cerebral atrophy, Dry skin OMIM:618797
Agel Amyloidosis
Cutis laxa, Xerostomia, Edema, Blepharochalasis, Dry skin ORPHA:85448
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Redundant skin, Soft, doughy skin, Short stature, Blepharochalasis OMIM:225410
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Dysphagia, Abnormal thalamic MRI si... ORPHA:157846
Popov-Chang syndrome
Short stature, Failure to thrive, Dry skin OMIM:618428
Ataxia-Telangiectasia-Like Disorder 2
Dysphagia, Neurodegeneration, Cerebellar atrophy, Short stature, Microcephaly OMIM:615919
Anauxetic Dysplasia 3
Cutis laxa, Severe short stature OMIM:618853
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Hypoplasia of the corpus callosum, Truncal obesity, Intrauterine ... ORPHA:2637
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Short stature, Microcephaly, Hypogonadism, Dry skin OMIM:601675
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Hypothyroidism, Agenesis of corpus callosum, Dry skin ORPHA:1812
Cardiofaciocutaneous Syndrome
Lymphedema, Redundant skin, Failure to thrive in infancy, Hyperextensible skin, Cerebral cortical... ORPHA:1340
Cach Syndrome
T2 hypointense thalamus, Dysphagia, Growth delay, Cerebral atrophy, Cerebellar atrophy, Cerebella... ORPHA:135
Focal Facial Dermal Dysplasia Type Iii
Redundant skin ORPHA:1807
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dysphagia, Growth delay, Abnormal thalamic MRI signal intensity, Cerebellar atrophy, Secondary mi... ORPHA:485421
Renal Hypoplasia
Dehydration, Polydipsia, Small for gestational age ORPHA:93101
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Dry skin OMIM:308800
Blepharonasofacial Malformation Syndrome
Redundant skin ORPHA:1252
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Adr... ORPHA:289548
21Q22.11Q22.12 Microdeletion Syndrome
Postnatal growth retardation, Failure to thrive in infancy, Short stature, Microcephaly, Agenesis... ORPHA:261323
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Adr... ORPHA:168558
Pili Torti-Onychodysplasia Syndrome
Dry skin ORPHA:2890
Helix Syndrome
Xerostomia, Polydipsia, Hyperparathyroidism, Dry skin OMIM:617671
Plummer-Vinson Syndrome
Dysphagia, Pallor, Geophagia ORPHA:54028
Hereditary Folate Malabsorption
Pallor, Cerebral calcification, Failure to thrive ORPHA:90045
Juvenile Dermatomyositis
Palpebral edema, Dysphagia, Weight loss, Erythema, Skin ulcer, Dry skin ORPHA:93672
Dyskeratosis Congenita, Autosomal Dominant 3
Growth delay, Cerebral calcification, Short stature, Intrauterine growth retardation, Microcephal... OMIM:613990
Alternating Hemiplegia Of Childhood
Dysphagia, Oral-pharyngeal dysphagia, Dehydration, Failure to thrive, Pallor ORPHA:2131
Primary Myelofibrosis
Purpura, Petechiae, Cachexia, Pallor, Ecchymosis ORPHA:824
Nephrogenic Diabetes Insipidus
Polyhydramnios, Nephrogenic diabetes insipidus, Growth delay, Failure to thrive, Short stature, H... ORPHA:223
Geroderma Osteodysplasticum
Microcephaly, Cutis laxa, Severe short stature OMIM:231070
Tangier Disease
Dry skin OMIM:205400
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Microcephaly, Cachexia, Short stature, Dry skin ORPHA:220295
Glucose-Galactose Malabsorption
Dehydration, Failure to thrive, Weight loss ORPHA:35710
Lenz-Majewski Hyperostotic Dwarfism
Cutis laxa, Short stature, Failure to thrive, Intrauterine growth retardation, Microcephaly, Agen... OMIM:151050
Koolen-De Vries Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hypothyroidism, Short stature, Microcephaly, Dry skin ORPHA:96169
Beta-Thalassemia
Hypogonadotropic hypogonadism, Pallor, Skin ulcer ORPHA:848
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Abnormal caudate nucleus morphology, Increased... ORPHA:95613
Prolactinoma
Abnormality of the pituitary gland, Male hypogonadism, Elevated circulating growth hormone concen... ORPHA:2965
Axenfeld-Rieger Syndrome
Redundant skin, Growth delay, Abnormality of the hypothalamus-pituitary axis ORPHA:782
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Dysphagia, Abn... ORPHA:79264
Infantile Nephropathic Cystinosis
Abnormal cerebral white matter morphology, Growth delay, Dehydration, Failure to thrive, Abnormal... ORPHA:411629
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Rhizomelia, Weight loss, Redundant neck skin, Failure to thrive ORPHA:1842
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Failure to thrive, Short stature OMIM:277170
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Microcephaly, Abnormal cerebral white matter morphology, Pallor OMIM:246450
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Hsd10 Disease, Infantile Type
Dysphagia, Neurodegeneration, Cerebral atrophy, Frontotemporal cerebral atrophy, Abnormality of t... ORPHA:391428
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dysphagia, Pallor ORPHA:13
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions, Short... ORPHA:557003
Noonan Syndrome 8
Polyhydramnios, Palmoplantar cutis laxa, Pleural effusion, Hyperextensible skin, Failure to thriv... OMIM:615355
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin ORPHA:1028
Arthrogryposis And Ectodermal Dysplasia
Microcephaly, Diabetes mellitus, Short stature, Dry skin OMIM:601701
Isovaleric Acidemia
Dehydration OMIM:243500
Cutis Laxa, Autosomal Recessive, Type Ia
Microcephaly, Redundant skin, Oligohydramnios OMIM:219100
Ameloonychohypohidrotic Syndrome
Dry skin OMIM:104570
Dravet Syndrome
Dysgenesis of the hippocampus, Pallor ORPHA:33069
Fucosidosis
Cerebral atrophy, Short stature, Dry skin OMIM:230000
American Trypanosomiasis
Periorbital edema, Edema, Pallor ORPHA:3386
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Cystinosis, Nephropathic
Male hypogonadism, Polydipsia, Dysphagia, Cerebral atrophy, Growth delay, Failure to thrive in in... OMIM:219800
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Combined Oxidative Phosphorylation Deficiency 24
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Neurodegeneration, Cerebellar atr... OMIM:616239
Dominant Beta-Thalassemia
Hypothyroidism, Growth delay, Hypopituitarism, Failure to thrive in infancy, Adrenal insufficienc... ORPHA:231226
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Hypoplasia of the corpus callosum, Dys... ORPHA:300570
Emanuel Syndrome
Oligohydramnios, Dysphagia, Abnormal cerebral white matter morphology, Cerebral atrophy, Growth d... ORPHA:96170
Retinitis Pigmentosa 51
Pallor OMIM:613464
Barber-Say Syndrome
Redundant skin, Hyperextensible skin, Failure to thrive ORPHA:1231
Cranioectodermal Dysplasia 3
Cutis laxa, Short stature, Dry skin OMIM:614099
Geroderma Osteodysplastica
Redundant skin, Growth delay, Severe short stature, Hyperextensible skin ORPHA:2078
Hydroxykynureninuria
Dry skin ORPHA:79155
Refsum Disease
Dry skin ORPHA:773
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Agenesis of corpus callosum, Cerebral white matter atrophy, Increased caud... ORPHA:3008
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neuronal loss in central nervous system, Neurodegeneration OMIM:256600
Koolen-De Vries Syndrome
Hypoplasia of the corpus callosum, Small for gestational age, Failure to thrive, Short stature, I... OMIM:610443
Weaver Syndrome
Cutis laxa, Dilation of lateral ventricles, Absent septum pellucidum OMIM:277590
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Failure to thrive, Dry skin ORPHA:238468
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Postnat... ORPHA:2177
Hallermann-Streiff Syndrome
Microcephaly, Proportionate short stature, Small for gestational age, Dry skin OMIM:234100
Spastic Paraplegia 79, Autosomal Recessive
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:615491
Myopathy, Mitochondrial, And Ataxia
Growth delay, Increased circulating prolactin concentration, Short stature, Pallor, Hyperthyroidism OMIM:617675
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the corpus callosum, Redundant skin, Cerebral cortical atrophy, Short statu... ORPHA:192
Dk1-Cdg
Cerebral cortical atrophy, Dry skin ORPHA:91131
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Dysphagia, Cerebral atrophy, Cerebellar atrophy, Hyperintensity of cereb... ORPHA:1947
Combined Oxidative Phosphorylation Defect Type 7
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Abnormal thalamic M... ORPHA:254930
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intensity, Abnormal basa... ORPHA:363558
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma, Pallor, Para... ORPHA:276621
Scarf Syndrome
Cutis laxa ORPHA:3134
Prolidase Deficiency
Dry skin, Skin ulcer, Erythema ORPHA:742
Methylmalonic Aciduria, Cblb Type
Dehydration, Failure to thrive OMIM:251110
Beta-Thalassemia Major
Hypothyroidism, Growth delay, Hypopituitarism, Failure to thrive in infancy, Adrenal insufficienc... ORPHA:231214
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Growth delay, Elevated circulating thyroid-stimulating ... OMIM:218700
Rheumatic Fever
Hemiballismus, Pallor, Erythema ORPHA:3099
Arterial Tortuosity Syndrome
Soft, doughy skin, Cutis laxa OMIM:208050
Methylmalonic Aciduria, Cbla Type
Dehydration, Failure to thrive OMIM:251100
Sepsis In Premature Infants
Purpura, Decreased body weight, Petechiae, Edema, Small for gestational age, Pallor ORPHA:90051
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Growth delay, Cerebral atrophy, Intrauterine growth retardation, Dehydration, Le... ORPHA:79282
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Soft skin, Mild short stature, Hyperextensible skin OMIM:130060
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Growth delay, Adrenal insufficiency, Hypogonadism, Pallor, Abnormality of the hyp... ORPHA:300298
Kanzaki Disease
Lymphedema, White mater abnormalities in the posterior periventricular region, Cerebral atrophy, ... OMIM:609242
Pearson Syndrome
Hydrops fetalis, Hypothyroidism, Dysphagia, Growth delay, Postnatal growth retardation, Adrenal i... ORPHA:699
Lysinuric Protein Intolerance
Cutis laxa, Hyperextensible skin, Truncal obesity, Short stature, Failure to thrive OMIM:222700
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Hyperextensible skin, Failure to thrive ORPHA:157965
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal putamen morphology, Cerebral edema ORPHA:88619
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive OMIM:619046
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Oligomeganephronia
Dehydration, Polydipsia, Small for gestational age ORPHA:2260
Myelofibrosis
Pallor, Purpura OMIM:254450
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Failure to thrive, Abnormal basal ganglia MRI signal inte... ORPHA:444013
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Dry skin OMIM:614940
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Disproportionate short stature, Pachygyria, Oligohydramnios, Stillbirth, Failure to thrive, Hypop... OMIM:210710
Irida Syndrome
Pallor ORPHA:209981
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Dermal translucency, Oligohydramnios, Growth delay, Hyperextensible skin, Intrauterine growth ret... ORPHA:541423
Cutis Laxa, Autosomal Recessive, Type Ic
Periorbital edema, Cutis laxa, Growth delay OMIM:613177
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin OMIM:600906
Cockayne Syndrome B
Severe failure to thrive, Cerebral atrophy, Postnatal growth retardation, Severe short stature, S... OMIM:133540