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
increased blood urea nitrogen level Hap1tm1b(KOMP)Wtsi HET Early adult 3.15×10-05
preweaning lethality, complete penetrance Hap1tm1b(KOMP)Wtsi HOM   Early adult 0.00

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Select physiological systems to view:
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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
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)
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 100% (2 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)
Midbrain N/A heterozygote 100% (2 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)
Pituitary gland N/A heterozygote 100% (2 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)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

7 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

MicroCT E18.5

Embryo reconstruction

2 Images

X-ray

XRay Images Forepaw

9 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
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Abnorma... OMIM:614963
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Dystonia 30
Diffuse cerebral atrophy, Aggressive behavior, Hypothalamic hamartoma, Compulsive behaviors, Impu... OMIM:619291
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Failure to thrive, Anorexia ORPHA:79283
Chronic Hiccup
Weight loss, Abnormal eating behavior, Dehydration ORPHA:396
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Decreased thalamic volume, Dysphagia, Failure to thrive OMIM:613668
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Intrauterine growth retardation, Transie... ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... OMIM:601410
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Redundant skin, Neonatal death OMIM:301021
Thyrotropin-Releasing Hormone Deficiency
Short stature, Dry skin, Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Cutis laxa, Redundant skin, Increased number of skin folds ORPHA:436274
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Weight loss, Anorexia, Diabetes insipidus, Dehydration ORPHA:178029
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Reticular Dysgenesis
Skin ulcer, Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss, Dehydration ORPHA:33355
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Excessive insulin response to gl... ORPHA:324575
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Increased body... OMIM:614450
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pallor, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperinsuline... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Cerebral atrophy, Intrauterine growth retardation, Focal T2 hyperintense th... OMIM:619057
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin, Decreased circulating T4 concentration, Severe postnatal growth retardation, Hypothyroi... OMIM:275100
Phenylketonuria
Dry skin, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperac... OMIM:261600
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Postnatal growth retardation, Obe... ORPHA:54595
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Ichthyosis Vulgaris
Dry skin OMIM:146700
Ataxia-Photosensitivity-Short Stature Syndrome
Short stature, Dry skin ORPHA:1184
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Erythrokeratodermia Variabilis
Erythema, Dry skin, Weight loss, Short stature, Diabetes mellitus ORPHA:317
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Excessive insulin response to gl... ORPHA:276556
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dry skin, Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Growth delay OMIM:618010
Alexander Disease Type I
Cerebellar atrophy, Failure to thrive, Cachexia, Dysphagia, Abnormal thalamic MRI signal intensity ORPHA:363717
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Cutis laxa, Redundant skin ORPHA:91135
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Growth delay, Failure to thrive, Pallor OMIM:613561
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Partial agenesis of the corpus callosum ORPHA:2101
Neurodevelopmental Disorder With Language Delay And Seizures
Obsessive-compulsive trait, Diffuse cerebral atrophy, Attention deficit hyperactivity disorder, H... OMIM:619908
Rafiq Syndrome
Obesity, Aggressive behavior, Cutis laxa, Truncal obesity, Short stature OMIM:614202
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Dysphagia, Failure to thrive, Dehydration OMIM:618958
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Ulerythema Ophryogenesis
Dry skin, Facial erythema ORPHA:3406
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Congenital Disorder Of Glycosylation, Type Iq
Dry skin, Cutis laxa, Dysphagia, Failure to thrive OMIM:612379
Familial Cold Urticaria
Erythema, Polydipsia, Dehydration ORPHA:47045
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Scaling skin, Palmoplantar scaling skin, Dry skin ORPHA:530838
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic ... ORPHA:3085
Congenital Lethal Erythroderma
Dry skin, Failure to thrive ORPHA:1954
Primary Lateral Sclerosis, Juvenile
Dysphagia, Pallor, Pseudobulbar paralysis OMIM:606353
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Duplication Of The Pituitary Gland
Self-mutilation, Decreased body weight, Abnormal hypothalamus morphology, Short stature, Abnormal... ORPHA:314621
Coasy Protein-Associated Neurodegeneration
Compulsive behaviors, Abnormal thalamus morphology ORPHA:397725
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Dry skin OMIM:218650
Elastosis Perforans Serpiginosa
Cutis laxa ORPHA:79148
Acute Myelomonocytic Leukemia
Weight loss, Pallor ORPHA:517
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema OMIM:212360
Peripheral Cone Dystrophy
Pallor OMIM:609021
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dysphagia, Thalamic calcification, Brain atrophy OMIM:618317
Riddle Syndrome
Short stature, Dry skin OMIM:611943
Congenital Disorder Of Glycosylation, Type Iir
Ascites, Cutis laxa OMIM:301045
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Recessive X-Linked Ichthyosis
Dry skin, Attention deficit hyperactivity disorder ORPHA:461
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Diabetes mellitus, Pallor, Anorexia ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Neonatal death, Agenesis of corpus callosum, Small for gestational age, Edema OMIM:610498
Classic Mycosis Fungoides
Erythema, Dry skin, Skin ulcer, Edema ORPHA:2584
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Cerebral cortical atrophy, Obesity, Frontal cortical atrophy, Atrophy of th... ORPHA:2822
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity disorder, Im... OMIM:618929
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Cerebral cortical atrophy, Caudate atrophy, Disinhibition OMIM:618193
Dermoodontodysplasia
Dry skin OMIM:125640
Acquired Ichthyosis
Erythema, Dry skin ORPHA:454
Alg8-Cdg
Failure to thrive, Premature skin wrinkling, Ascites, Intrauterine growth retardation, Oligohydra... ORPHA:79325
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Increased circulating cortico... OMIM:610600
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Abnormal elasticity of skin, Overweight, Delayed puberty ORPHA:486815
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Growth delay, Pallor, Anorexia OMIM:500007
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin ORPHA:1779
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Insulin-resistant diabetes mellitus, Dry skin, Hyperinsulinemia, Short statur... OMIM:262190
Ddost-Cdg
Short stature, Dry skin, Failure to thrive, Primary hypothyroidism ORPHA:300536
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Failure to thrive, Dehydration OMIM:616069
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 concentration, Abnormality of thyroid physiology, Dry skin, Reduced radi... ORPHA:95715
Hypercalcemia, Infantile, 1
Weight loss, Decreased circulating parathyroid hormone level, Failure to thrive, Dehydration OMIM:143880
Septo-Optic Dysplasia Spectrum
Polydipsia, Dry skin, Obesity, Agenesis of corpus callosum, Maternal diabetes, Anterior pituitary... ORPHA:3157
Sjögren-Larsson Syndrome
Short stature, Erythema, Dry skin ORPHA:816
Lamellar Ichthyosis
Short stature, Dry skin, Dehydration, Lack of skin elasticity ORPHA:313
Huriez Syndrome
Dry skin, Lack of skin elasticity ORPHA:384
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Dry skin, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Beta-Ketothiolase Deficiency
Edema, Pallor, Agitation, Oral aversion, Weight loss, Anorexia, Dehydration ORPHA:134
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Cutis laxa, Scaling skin ORPHA:2269
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:28
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Dehydration, Anorexia ORPHA:79312
Thyroid Dyshormonogenesis 1
Dry skin, Hypothyroidism, Growth delay, Goiter OMIM:274400
Periodontal Ehlers-Danlos Syndrome
Short stature, Hyperextensible skin ORPHA:75392
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy OMIM:610951
Cystinosis
Type I diabetes mellitus, Polydipsia, Failure to thrive, Hypothyroidism, Delayed puberty, Nephrog... ORPHA:213
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Aggressive behavior, Self-injurious behavior, Dry skin OMIM:300860
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Dry skin, ... ORPHA:99832
Man1B1-Cdg
Polyphagia, Cutis laxa, Truncal obesity ORPHA:397941
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:289504
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Aggressive behavior, Dry skin OMIM:620191
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... ORPHA:556030
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Beta-Mercaptolactate Cysteine Disulfiduria
Short stature, Dry skin, Obesity ORPHA:1035
Radio-Tartaglia Syndrome
Precocious puberty, Dry skin, Obesity, Striae distensae, Agenesis of corpus callosum, Aggressive ... OMIM:619312
Progeroid Syndrome, Petty Type
Failure to thrive, Intrauterine growth retardation, Redundant skin, Cutis laxa, Short stature ORPHA:2963
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor, Failure to thrive, Anorexia OMIM:611590
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Bachmann-Bupp Syndrome
Dry skin, Large for gestational age, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:619075
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin, Attention deficit hyperactivity disorder OMIM:617364
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin ORPHA:35664
Atelis Syndrome 1
Dry skin, Attention deficit hyperactivity disorder, Hypothyroidism OMIM:620184
Diaminopentanuria
Neurodegeneration OMIM:222350
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Cutis Laxa, Autosomal Recessive, Type Iie
Short stature, Cutis laxa OMIM:619451
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Small for gestational age, Failure to thrive, Agenesis of corpus callosum OMIM:214150
Leishmaniasis
Weight loss, Pallor, Skin ulcer, Anorexia ORPHA:507
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa OMIM:614100
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Trichothiodystrophy 6, Nonphotosensitive
Short stature, Dry skin, Mild intrauterine growth retardation, Small for gestational age OMIM:616943
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin OMIM:612952
Bone Marrow Failure Syndrome 4
Short stature, Dry skin, Rhizomelia OMIM:618116
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin sys... OMIM:264350
Basal Ganglia Calcification, Idiopathic, 5
Motor tics, Thalamic calcification OMIM:615483
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebral cortical atrophy, Decreased thalamic volume OMIM:619072
Breath-Holding Spells
Pallor OMIM:607578
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Perioral erythema, Decreased serum testosterone concentration, Dry skin, Hypog... OMIM:201100
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Decreased circulating aldosterone level, Growth delay, Dehydration, Increased ... OMIM:203400
X-Linked Creatine Transporter Deficiency
Redundant skin, Self-mutilation, Cachexia, Hyperactivity, Short stature ORPHA:52503
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, In... ORPHA:90674
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin sys... OMIM:177735
Macs Syndrome
Redundant skin, Hyperextensible skin, Decreased body weight, Cutis laxa, Short stature, Palpebral... OMIM:613075
Cutis Laxa, Autosomal Recessive, Type Iiia
Failure to thrive, Intrauterine growth retardation, Hyperextensible skin, Cutis laxa, Short stature OMIM:219150
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Dry skin ORPHA:2617
Congenital Heart Block
Intrauterine growth retardation, Peripheral edema, Pleural effusion, Oligohydramnios, Pallor, Per... ORPHA:60041
Complex Regional Pain Syndrome
Erythema, Dry skin, Edema of the upper limbs, Pedal edema ORPHA:83452
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Weight loss, Growt... ORPHA:95427
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased bod... OMIM:617672
Rhizomelic Chondrodysplasia Punctata
Short stature, Dry skin, Rhizomelia, Growth delay ORPHA:177
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Aicardi-Goutieres Syndrome 9
Failure to thrive, Lateral ventricle dilatation, Ascites, Dry skin, Intrauterine growth retardati... OMIM:619487
Optic Atrophy 1
Pallor OMIM:165500
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Failure to thrive in infancy, Postnatal growth retardation, Stereotypica... ORPHA:261323
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
Dry skin OMIM:600906
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Vipoma
Erythema, Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, ... ORPHA:97282
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Short stature, Cutis laxa, Growth delay, Hyperextensible skin ORPHA:75496
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Cutis Laxa, Autosomal Recessive, Type Iib
Failure to thrive, Intrauterine growth retardation, Redundant skin, Excessive wrinkled skin, Agen... OMIM:612940
Omenn Syndrome
Failure to thrive, Edema, Dry skin, Hypothyroidism, Thyroiditis ORPHA:39041
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Abnormal circulating aldosterone, Increased circulating renin level... ORPHA:171876
Ehlers-Danlos Syndrome, Classic Type, 2
Soft, doughy skin, Hyperextensible skin, Soft skin OMIM:130010
Acrodermatitis Enteropathica
Erythema, Failure to thrive, Skin ulcer, Dry skin, Weight loss, Anorexia, Short stature ORPHA:37
Primary Myelofibrosis
Pallor, Petechiae, Ecchymosis, Cachexia, Anorexia, Purpura ORPHA:824
Cutis Laxa, Autosomal Recessive, Type Iia
Failure to thrive, Intrauterine growth retardation, Redundant skin, Excessive wrinkled skin, Cuti... OMIM:219200
Retinitis Pigmentosa 51
Obesity, Pallor OMIM:613464
Familial Renal Glucosuria
Moderate postnatal growth retardation, Dehydration ORPHA:69076
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Dehydration, Edema ORPHA:103910
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Failure to thrive, Dehydration OMIM:602722
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Short stature, Dry skin, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus OMIM:268020
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Dry skin, Intrauterine growth retardation, Obesity, Oligohydramnios... OMIM:619229
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Myopathic Ehlers-Danlos Syndrome
Pallor, Failure to thrive, Hyperextensible skin, Soft skin ORPHA:536516
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Failure to thrive, Graves disease, Adrenocorticotrop... ORPHA:199299
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Aggressive behavior, Lateral ventricle dilatation, Dry skin, Agenesis of corpus callosum OMIM:619244
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Intrauterine growth retardation, Increased nuchal tran... ORPHA:2655
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Noonan Syndrome 5
Short stature, Dry skin, Large for gestational age, Polyhydramnios OMIM:611553
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemoglobin D Disease
Pallor ORPHA:90039
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Scaling skin, Growth delay, Dry skin OMIM:614457
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Hyperextensible skin OMIM:619764
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Short stature, Neurodegeneration, Absent pubertal growth spurt, Cerebellar atrophy ORPHA:438134
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Pallor, Pancreatic islet-cell hyperplasia, Increased... ORPHA:263455
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Short stature, Diabetes insipidus, Hypertonic dehydration OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Nephrogenic diabetes insipidus, Short stature, Hypertonic dehydration OMIM:125800
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Oligohydramnios, Pallor, Hydrops fetalis ORPHA:163596
Leopard Syndrome 2
Short stature, Dry skin OMIM:611554
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
6P22 Microdeletion Syndrome
Redundant skin ORPHA:251046
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Pallor, D... OMIM:609053
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin OMIM:617066
Netherton Syndrome
Short stature, Dry skin, Dehydration ORPHA:634
Adiposis Dolorosa
Dry skin, Obesity, Hypothyroidism, Xerostomia ORPHA:36397
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Redundant skin,... ORPHA:357074
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema... ORPHA:281127
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Hyperextensible skin, Decreased body weight, Cutis laxa, Short stature, Dermal translucency, Soft... OMIM:615349
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Thanatophoric Dysplasia Type 2
Short stature, Increased nuchal translucency, Polyhydramnios, Redundant skin ORPHA:93274
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hyperextensible skin OMIM:615937
Dermoodontodysplasia
Dry skin ORPHA:1660
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Postnatal growth retardation, Intrauterine growth retardation, Cutis la... OMIM:616603
Trichothiodystrophy 8, Nonphotosensitive
Cutis laxa OMIM:619691
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Craniofaciofrontodigital Syndrome
Lower eyelid edema, Premature skin wrinkling, Large for gestational age, Polyhydramnios, Palmopla... ORPHA:363705
Cardiac Valvular Dysplasia, X-Linked
Cutis laxa OMIM:314400
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Dry skin, Intrauterine growth retardation, Growth delay, Peau d'orange OMIM:614576
Weaver Syndrome
Redundant skin ORPHA:3447
Xeroderma Pigmentosum Variant
Dry skin ORPHA:90342
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Dehydration OMIM:251120
Acute Adrenal Insufficiency
Failure to thrive, Androgen insufficiency, Increased circulating ACTH level, Dry skin, Primary ad... ORPHA:95409
Cutis Laxa-Marfanoid Syndrome
Redundant skin ORPHA:171719
Menkes Disease
Short stature, Intrauterine growth retardation, Cutis laxa OMIM:309400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Failure to thrive, Dehydration OMIM:560000
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Congenital Disorder Of Glycosylation, Type If
Dry skin, Failure to thrive, Scaling skin OMIM:609180
Distal Duplication 6P
Short stature, Dry skin, Intrauterine growth retardation ORPHA:1745
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Noonan Syndrome 13
Head-banging, Lymphedema, Dry skin, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:619087
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Cutis laxa OMIM:610842
Pearson Marrow-Pancreas Syndrome
Erythema, Type I diabetes mellitus, Failure to thrive, Pallor, Anorexia, Hydrops fetalis, Small f... OMIM:557000
Hydroxykynureninuria
Dry skin, Motor stereotypy ORPHA:79155
Alternating Hemiplegia Of Childhood
Failure to thrive, Oral-pharyngeal dysphagia, Pallor, Impulsivity, Aggressive behavior, Anorexia,... ORPHA:2131
Bohring-Opitz Syndrome
Failure to thrive, Intrauterine growth retardation, Mesomelic/rhizomelic limb shortening, Polyhyd... OMIM:605039
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Growth delay, Pallor OMIM:615631
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Familial Melanoma
Dry skin ORPHA:618
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Pallor, Lymphedema ORPHA:3226
Hereditary Folate Malabsorption
Pallor, Failure to thrive, Anorexia ORPHA:90045
Enteric Anendocrinosis
Type I diabetes mellitus, Dehydration ORPHA:83620
Non-Functioning Paraganglioma
Weight loss, Pallor, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Leopard Syndrome 3
Short stature, Dry skin, Growth delay OMIM:613707
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Intrauterine growth retardation, Redundant neck skin, Nonimmune hydrops fetalis OMIM:619003
Carnitine Deficiency, Systemic Primary
Failure to thrive, Dehydration OMIM:212140
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Cerebral atrophy, Abnormal fear-induced behavior, Neurodegeneration, Post... ORPHA:309246
Dravet Syndrome
Pallor, Obsessive-compulsive trait, Impulsivity ORPHA:33069
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Pallor, Weight loss, Anorexia, Dehydration ORPHA:20
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration, Motor tics, Compulsive behaviors OMIM:615643
Addison Disease
Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, Adrenal calcificati... ORPHA:85138
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Growth delay, Failure to thrive, Thyroiditis OMIM:617388
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Cranioectodermal Dysplasia 4
Short stature, Cutis laxa OMIM:614378
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Restlessness, Dysphagia, Agitation ORPHA:13
Squalene Synthase Deficiency
Failure to thrive in infancy, Dry skin, Intrauterine growth retardation OMIM:618156
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Dry skin, Abnormality of the thyr... ORPHA:95712
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Intrauterine growth retardation, Abnormality of the diencephalon ORPHA:2570
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Polyhydramnios, Hyperactive renin-angiotensin system, Grow... OMIM:214700
19Q13.11 Microdeletion Syndrome
Failure to thrive, Dry skin, Intrauterine growth retardation, Cachexia, Growth delay ORPHA:217346
Neuralgic Amyotrophy
Short stature, Redundant neck skin ORPHA:2901
Macrocephaly/Autism Syndrome
Obesity, Cutis laxa, Large for gestational age OMIM:605309
Jung Syndrome
Dry skin, Hypothyroidism ORPHA:2321
Schopf-Schulz-Passarge Syndrome
Dry skin OMIM:224750
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Hypopituitarism, Pallor, Delayed puberty, Growth delay OMIM:600462
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Costello Syndrome
Failure to thrive in infancy, Redundant skin, Polyhydramnios, Lack of skin elasticity, Short stature ORPHA:3071
Propionic Acidemia
Short stature, Failure to thrive, Dehydration OMIM:606054
9P13 Microdeletion Syndrome
Precocious puberty, Bruxism, Dry skin, Attention deficit hyperactivity disorder, Short stature ORPHA:324313
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebellar atrophy, Dysphagia, Cerebral atrophy ORPHA:1947
Rin2 Syndrome
Hyperextensible skin, Upper eyelid edema, Redundant skin, Hypergonadotropic hypogonadism ORPHA:217335
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration ORPHA:33110
Rahman Syndrome
Redundant skin OMIM:617537
Peeling Skin Syndrome 6
Dry skin, Scaling skin OMIM:618084
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Hypernatremic dehydration, Polyhydramnios, Nephrogenic diabetes in... ORPHA:223
Tubulinopathy-Associated Dysgyria
Attention deficit hyperactivity disorder, Abnormal thalamus morphology ORPHA:467166
Sézary Syndrome
Dry skin, Edema ORPHA:3162
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Ascites, Decreased body wei... ORPHA:1667
Plummer-Vinson Syndrome
Pallor, Dysphagia, Geophagia ORPHA:54028
Chromosome 19Q13.11 Deletion Syndrome, Distal
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Dry skin, Short... OMIM:613026
Hatipoglu Immunodeficiency Syndrome
Failure to thrive, Dry skin, Intrauterine growth retardation, Petechiae, Proportionate short stature OMIM:620331
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Oligohydramnios, Nephrogenic diabetes insipidus, Small for gestational age, De... OMIM:208085
Harlequin Ichthyosis
Self-injurious behavior, Dehydration ORPHA:457
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Immunodeficiency 49
Cutis laxa, Agenesis of corpus callosum OMIM:617237
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Rabson-Mendenhall Syndrome
Precocious puberty, Polydipsia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Dr... ORPHA:769
Ehlers-Danlos Syndrome, Hypermobility Type
Striae distensae, Hyperextensible skin, Soft skin OMIM:130020
Ogden Syndrome
Postnatal growth retardation, Cutis laxa ORPHA:276432
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Restlessness ORPHA:68
Cach Syndrome
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Intrauterine growth retardation,... ORPHA:135
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Alg11-Cdg
Dry skin, Failure to thrive ORPHA:280071
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Increased nuchal translucency, Redundant skin, Excessive wrink... ORPHA:1860
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Noonan Syndrome 14
Short stature, Dry skin, Polyhydramnios, Lateral ventricle dilatation OMIM:619745
Anauxetic Dysplasia 3
Severe short stature, Cutis laxa OMIM:618853
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Dry skin, Hypothyroidism, Agenesis of corpus callosum ORPHA:1812
Xfe Progeroid Syndrome
Severe short stature, Failure to thrive, Ascites, Dry skin, Cachexia OMIM:610965
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Dehydration, Increased circulating renin level OMIM:620126
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Soft, doughy skin, Postnatal growth retardation, Blepharochalasis, Redundant skin, Hyperextensibl... OMIM:225410
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short stature, Postnatal growth retardation, Cutis laxa OMIM:614800
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp... OMIM:223360
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Focal Facial Dermal Dysplasia Type Iii
Redundant skin ORPHA:1807
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Dehydration, Increased circulating renin level OMIM:620125
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive, Agitation OMIM:619046
Agel Amyloidosis
Xerostomia, Dry skin, Blepharochalasis, Cutis laxa, Edema ORPHA:85448
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Blepharonasofacial Malformation Syndrome
Redundant skin ORPHA:1252
Nephronophthisis 9
Postnatal growth retardation, Polydipsia OMIM:613824
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Intrauterine growth retardation, Cutis laxa, Excessive wrinkled skin OMIM:614438
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Failure to thrive, Adrenal calcification, Absence... ORPHA:289548
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dry skin, Facial erythema OMIM:308800
Renal Hypoplasia
Polydipsia, Small for gestational age, Dehydration ORPHA:93101
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin OMIM:618535
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Beta-Thalassemia
Hypogonadotropic hypogonadism, Pallor, Skin ulcer ORPHA:848
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Failure to thrive, Absence of secondary sex chara... ORPHA:168558
De Barsy Syndrome
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Excessive wrink... ORPHA:2962
Cutis Laxa, Autosomal Recessive, Type Ia
Cutis laxa, Oligohydramnios, Redundant skin, Hyperextensible skin OMIM:219100
Pili Torti-Onychodysplasia Syndrome
Dry skin ORPHA:2890
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Koolen-De Vries Syndrome
Failure to thrive, Dry skin, Intrauterine growth retardation, Hyperactivity, Short stature, Small... OMIM:610443
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Disproportionate short stature, Dry skin, Intrauterine growth retardation, At... ORPHA:2637
Juvenile Dermatomyositis
Erythema, Skin ulcer, Dry skin, Weight loss, Palpebral edema, Dysphagia ORPHA:93672
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Polyphagia, Obesity, Hyperinsulinemia OMIM:617885
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Failure to thrive, Dehydration OMIM:615453
Cardiofaciocutaneous Syndrome
Lymphedema, Failure to thrive in infancy, Dry skin, Redundant skin, Excessive wrinkled skin, Hype... ORPHA:1340
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive, Dehydration ORPHA:35710
C Syndrome
Short stature, Cutis laxa, Failure to thrive OMIM:211750
Helix Syndrome
Hyperparathyroidism, Polydipsia, Xerostomia, Dry skin OMIM:617671
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Failure to thrive, Recurrent hand flapping, Agenesis of corpus callosum... ORPHA:3008
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Growth delay, Dysphagia, Abnormal thalamic MRI signal intensity ORPHA:485421
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Postnatal growth retardation, Intrauterine growth retardation, Dry skin, Cerebral edema OMIM:620510
Weaver Syndrome
Polyphagia, Cutis laxa, Lateral ventricle dilatation OMIM:277590
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Dysphagia, Motor ste... ORPHA:79264
Axenfeld-Rieger Syndrome
Redundant skin, Growth delay, Abnormality of the hypothalamus-pituitary axis ORPHA:782
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Polyhydramnios, Cutis laxa OMIM:270420
Tangier Disease
Dry skin OMIM:205400
Koolen-De Vries Syndrome
Short stature, Dry skin, Hypothyroidism, Overfriendliness ORPHA:96169
Idiopathic Pulmonary Hemosiderosis
Pallor, Failure to thrive ORPHA:99931
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Dry skin OMIM:618282
Pallister-Hall-Like Syndrome
Short stature, Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Dry skin, Agenesis of corpus callosum, Elevated c... OMIM:618419
Congenital Disorder Of Glycosylation, Type Im
Dry skin, Failure to thrive OMIM:610768
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Pallor ORPHA:64280
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Dehydration OMIM:251000
Congenital Tufting Enteropathy
Weight loss, Failure to thrive, Dehydration ORPHA:92050
American Trypanosomiasis
Periorbital edema, Pallor, Edema ORPHA:3386
Geroderma Osteodysplasticum
Severe short stature, Cutis laxa, Neonatal wrinkled skin of hands and feet, Premature skin wrinkling OMIM:231070
Shigellosis
Failure to thrive in infancy, Purpura, Dehydration, Anorexia ORPHA:810
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Disproportionate short stature, Redundant skin, Neonatal death,... OMIM:616482
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin ORPHA:1028
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Isovaleric Acidemia
Dehydration OMIM:243500
Rheumatic Fever
Erythema, Pallor, Anorexia ORPHA:3099
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Growth delay, Pallor OMIM:615234
Noonan Syndrome 8
Failure to thrive, Large for gestational age, Pleural effusion, Polyhydramnios, Hyperextensible s... OMIM:615355
Intellectual Developmental Disorder, Autosomal Dominant 54
Bruxism, Dry skin, Aggressive behavior, Short stature, Growth delay, Small for gestational age OMIM:617799
Recon Progeroid Syndrome
Short stature, Dry skin, Growth delay, Scaling skin OMIM:620370
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Scaling skin OMIM:612281
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Dehydration OMIM:246450
Trichothiodystrophy 1, Photosensitive
Short stature, Dry skin, Small for gestational age, Hypogonadism OMIM:601675
Trichorhinophalangeal Syndrome Type 2
Short stature, Growth delay, Redundant skin ORPHA:502
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Short stature, Postnatal growth retardation, Neurodegeneration OMIM:620210
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Scaling skin, Multinodular goiter OMIM:618373
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Dry skin, Short stature, Growth delay, Decreased serum leptin OMIM:614008
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Xerostomia OMIM:618527
Geroderma Osteodysplastica
Severe short stature, Hyperextensible skin, Growth delay, Redundant skin ORPHA:2078
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Intrauterine growth retardation, Agenesis of corpus callosum, Dysplastic corpu... OMIM:151050
Cranioectodermal Dysplasia 3
Short stature, Dry skin, Rhizomelia, Cutis laxa OMIM:614099
Fumarase Deficiency
Failure to thrive, Ascites, Pallor, Agenesis of corpus callosum, Polyhydramnios OMIM:606812
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy OMIM:615889
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Barber-Say Syndrome
Redundant skin, Failure to thrive, Hyperextensible skin ORPHA:1231
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Aggressive be... OMIM:615157
Irida Syndrome
Pallor ORPHA:209981
Hypohidrotic Ectodermal Dysplasia
Dry skin, Xerostomia, Failure to thrive ORPHA:238468
Waldenström Macroglobulinemia
Pleural effusion, Pallor, Anorexia, Periorbital edema, Purpura, Pedal edema ORPHA:33226
Sepsis In Premature Infants
Pallor, Petechiae, Decreased body weight, Purpura, Small for gestational age, Edema ORPHA:90051
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Dry skin, Obesity, Increased nuchal translucency, Reduced circulating growth hormone concentratio... OMIM:620654
Arterial Tortuosity Syndrome
Soft, doughy skin, Cutis laxa, Hyperextensible skin, Soft skin OMIM:208050
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Neurodegeneration, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem OMIM:612319
Dominant Beta-Thalassemia
Skin ulcer, Failure to thrive in infancy, Hypopituitarism, Adrenal insufficiency, Pallor, Hypothy... ORPHA:231226
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Pallor, Adrenal pheochromocytoma, Weight loss, Paraganglioma of he... ORPHA:276621
Oligomeganephronia
Polydipsia, Small for gestational age, Dehydration ORPHA:2260
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Prolidase Deficiency
Erythema, Skin ulcer, Dry skin ORPHA:742
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Diffuse cerebral atrophy, P... ORPHA:391428
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Intrauterine growth retardation, Polyhydramnios, Growth delay, Dehydration OMIM:616271
Loeys-Dietz Syndrome 4
Striae distensae, Cutis laxa, Hyperextensible skin, Soft skin OMIM:614816
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Abnormality of thyroid physiology, Growth delay, Dehydration ORPHA:411629
Refsum Disease
Dry skin ORPHA:773
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin OMIM:618797
B4Galt1-Cdg
Hypothyroidism, Redundant neck skin, Small for gestational age, Edema ORPHA:79332
Neurodegeneration With Brain Iron Accumulation 5