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Gene: Rint1 MGI:1916233

Gene Summary

Name:

RAD50 interactor 1

Synonyms:

1500019C06Rik, 2810450M21Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
decreased circulating calcium level	Rint1^{tm1b(KOMP)Wtsi}	HET	Early adult	4.80×10^-11
preweaning lethality, complete penetrance	Rint1^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
embryonic lethality prior to tooth bud stage	Rint1^{tm1b(KOMP)Wtsi}	HOM	E12.5	0.00
decreased circulating serum albumin level	Rint1^{tm1b(KOMP)Wtsi}	HET	Early adult	4.81×10^-05
decreased circulating glucose level	Rint1^{tm1b(KOMP)Wtsi}	HET	Early adult	6.87×10^-08
decreased circulating free fatty acids level	Rint1^{tm1b(KOMP)Wtsi}	HET	Early adult	3.48×10^-07
decreased circulating total protein level	Rint1^{tm1b(KOMP)Wtsi}	HET	Early adult	4.27×10^-05
embryonic lethality prior to organogenesis	Rint1^{tm1b(KOMP)Wtsi}	HOM	E9.5	0.00
increased circulating bilirubin level	Rint1^{tm1b(KOMP)Wtsi}	HET	Early adult	4.23×10^-05

Download data as: TSV XLS

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

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

Anatomy	Images	Zygosity	Mutant Expr
Embryo	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	50% (1 of 2)
Dorsal root ganglion	N/A	heterozygote	100% (1 of 1)
Ear	N/A	heterozygote	50% (1 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	heterozygote	50% (1 of 2)
Forebrain	N/A	heterozygote	Ambiguous
Forelimb	N/A	heterozygote	100% (2 of 2)
Fronto-nasal process	N/A	heterozygote	Ambiguous
Handplate	N/A	heterozygote	100% (2 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	50% (1 of 2)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	Ambiguous
Mandibular process	N/A	heterozygote	100% (2 of 2)
Maxillary process	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	heterozygote	Ambiguous
Nose	N/A	heterozygote	100% (1 of 1)
Oral cavity	N/A	heterozygote	Ambiguous
Skin	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (1 of 1)
Tail somite	N/A	heterozygote	50% (1 of 2)
Tail	N/A	heterozygote	50% (1 of 2)

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%

1 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Rint1 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.

Human diseases associated with Rint1 (1 diseases)
Human diseases predicted to be associated with Rint1 (679 diseases)

The table below shows human diseases associated to Rint1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Infantile Liver Failure Syndrome 3		Hyperammonemia	OMIM:618641

The table below shows human diseases predicted to be associated to Rint1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal...	ORPHA:145
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H...	ORPHA:50944
Ovarian Cancer	Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma	OMIM:167000
Breast-Ovarian Cancer, Familial, Susceptibility To, 3	Ovarian carcinoma, Breast carcinoma	OMIM:613399
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Breast carcinoma, Ovarian neoplasm	OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Breast carcinoma, Ovarian neoplasm	OMIM:604370
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom...	ORPHA:157798
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter	OMIM:616534
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Huriez Syndrome	Squamous cell carcinoma of the skin, Nail dystrophy	OMIM:181600
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Sex reversal, Squamous cell carcinoma of the skin	ORPHA:85112
Colorectal Cancer	Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder	OMIM:114500
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Subependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup...	ORPHA:251639
Ependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup...	ORPHA:251636
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar...	ORPHA:523
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Portal hypertension, Cryptorchidism, Premature graying of hair, Squamous cell car...	OMIM:620365
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
Ovarian Fibromata	Ovarian fibroma	OMIM:166970
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom...	OMIM:150800
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ...	ORPHA:276399
Muir-Torre Syndrome	Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben...	OMIM:158320
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm	OMIM:614350
Diarrhea 13	Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Macroglossia,...	ORPHA:2221
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce...	ORPHA:83469
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Albinism, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th...	ORPHA:79434
Xeroderma Pigmentosum, Complementation Group E	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	OMIM:278740
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Gonadoblastoma	Hirsutism, Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, ...	ORPHA:206484
Lynch Syndrome 4	Endometrial carcinoma, Ovarian neoplasm	OMIM:614337
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Xeroderma Pigmentosum, Complementation Group C	Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	OMIM:278720
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Bazex Syndrome	Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Cowden-Like syndrome	Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma	OMIM:612359
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Cheilitis Glandularis	Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma	ORPHA:1221
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Neoplasm, Hypogonadism, Squamous cell carcinoma of the skin, Cutaneous mela...	OMIM:610651
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Premature Ovarian Failure 8	Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei...	OMIM:615723
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro...	ORPHA:137608
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, ...	OMIM:620040
Muir-Torre Syndrome	Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica...	ORPHA:587
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
Xeroderma Pigmentosum, Complementation Group A	Melanoma, Squamous cell carcinoma of the skin	OMIM:278700
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ...	OMIM:616415
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Fanconi Renotubular Syndrome 5	Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
46,Xy Sex Reversal 6	Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Cho...	OMIM:613762
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ...	ORPHA:314478
Full Schwannomatosis	Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa...	ORPHA:93921
Lipodystrophy, Congenital Generalized, Type 3	Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Werner Syndrome	Skeletal muscle atrophy, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair,...	ORPHA:902
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Oculocutaneous Albinism Type 2	Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Basal cell carcinoma, Squam...	ORPHA:79432
Lhermitte-Duclos Disease	Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi...	ORPHA:65285
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Myelodysplasia, Hepatic necrosis, Premature graying of hair, Interstitial pneumonitis, ...	OMIM:127550
Familial Colorectal Cancer Type X	Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla...	ORPHA:440437
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:220295
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,...	ORPHA:314473
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord ...	ORPHA:370348
Fanconi Anemia, Complementation Group S	Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Spa...	OMIM:617883
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Prem...	ORPHA:363618
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Asbestos Intoxication	Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ...	ORPHA:2302
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Cowden Syndrome 7	Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci...	OMIM:616858
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Frasier Syndrome	Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism	OMIM:136680
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Leiomyoma, Uterine	Uterine leiomyoma	OMIM:150699
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Xeroderma Pigmentosum Variant	Melanoma, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:90342
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Cowden Syndrome 1	Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian...	OMIM:158350
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Schopf-Schulz-Passarge Syndrome	Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h...	OMIM:224750
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
2P21 Microdeletion Syndrome	Hypoglycemia, Hypocalcemia	ORPHA:163693
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Pneumonia, Squamous cell carcinoma, Squamous cell carcinoma of ...	ORPHA:217390
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Junctional Epidermolysis Bullosa Inversa	Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79405
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Solitary Fibrous Tumor	Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l...	ORPHA:2126
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog...	ORPHA:158057
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon	ORPHA:447877
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm	ORPHA:231632
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma	OMIM:612591
Adamantinoma	Hypercalcemia	ORPHA:55881
Late-Onset Junctional Epidermolysis Bullosa	Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79406
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Basal cell carcinoma, Long eyelashes, Squamous cell carcinoma of the sk...	ORPHA:79430
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma	ORPHA:220460
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill...	ORPHA:480536
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen...	ORPHA:1333
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma, Flexion contracture	ORPHA:357154
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Alopecia, Squamous cell carcinoma of the skin, Nail dystrophy	ORPHA:79396
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Lynch Syndrome 8	Endometrial carcinoma	OMIM:613244
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Self-Improving Dystrophic Epidermolysis Bullosa	Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79411
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Pancreatic Cancer, Susceptibility To, 5	Melanoma, Pancreatic adenocarcinoma	OMIM:618680
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Flexion contracture, Keratoacanthoma, Squamous cell carcinoma, Basal cell c...	OMIM:278760
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Adrenocortical Carcinoma	Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Hypertrich...	ORPHA:1501
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Necrobiosis Lipoidica	Squamous cell carcinoma	ORPHA:542592
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc...	OMIM:620189
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Carney Complex	Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,...	ORPHA:1359
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Breast carcinoma, Nail dystrophy, ...	OMIM:614564
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon...	ORPHA:293964
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma	OMIM:617100
Endometrial Cancer	Endometrial carcinoma	OMIM:608089
Blue Diaper Syndrome	Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio	ORPHA:94086
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess...	ORPHA:100079
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Nail dystrophy, Squamous cell carcinoma	OMIM:615225
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Tri...	OMIM:135150
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma...	OMIM:175200
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ...	OMIM:109400
Recessive Dystrophic Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Vaginal stricture	ORPHA:79409
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma	ORPHA:626
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Hypoglycemic seizures, Hyperbilirubinemia	OMIM:609734
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom...	ORPHA:1018
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, True hermaphroditism, Nephroblastoma, Congenital diaphragmat...	OMIM:194080
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	OMIM:278750
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Dengue Fever	Hypoproteinemia	ORPHA:99828
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Type II diabetes mel...	OMIM:616860
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp	OMIM:618373
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Neonatal hypoglycemia	OMIM:606407
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Mpi-Cdg	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia	OMIM:618805
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Hereditary Mixed Polyposis Syndrome	Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca...	ORPHA:157794
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Dermatomyositis	Abnormal hair quantity, Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma...	ORPHA:221
Johanson-Blizzard Syndrome	Diabetes mellitus, Hypoproteinemia	ORPHA:2315
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Ring Chromosome 12 Syndrome	Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Dystrophic toenail, Hemangioma, Breast ...	ORPHA:1439
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent pneumonia, Bronchiectasis, Squamous cell carcinoma,...	OMIM:243700
Crouzon Syndrome	Dysgerminoma	OMIM:123500
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia	OMIM:602579
Teratoma, Ovarian	Ovarian teratoma	OMIM:166950
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79410
Timothy Syndrome	Hypoglycemia, Hypocalcemia	OMIM:601005
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality...	ORPHA:201
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu...	ORPHA:2298
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea	ORPHA:2070
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia, Steatorrhea	OMIM:235555
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Apert Syndrome	Ovarian neoplasm	ORPHA:87
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Papillon-Lefèvre Syndrome	Recurrent respiratory infections, Liver abscess, Generalized hirsutism, Squamous cell carcinoma, ...	ORPHA:678
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi...	ORPHA:99880
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype...	ORPHA:1667
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi...	ORPHA:143
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Visceral angiomatosis, Lymphoma, Hamarto...	ORPHA:109
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Adrenal hyperplasia, Pneumonia, Jaundice, Male pseudohermaphroditism, Brea...	ORPHA:90790
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia, Hypogl...	OMIM:251880
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ...	OMIM:227810
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Atypical Werner Syndrome	Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, ...	ORPHA:79474
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Fanconi Anemia, Complementation Group P	Cryptorchidism, Squamous cell carcinoma	OMIM:613951
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Nail dystrophy, Squamous cell carcinoma	OMIM:226600
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Rhabdoid Tumor Predisposition Syndrome 1	Medulloblastoma, Choroid plexus carcinoma	OMIM:609322
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Absent pubic hair, Squam...	OMIM:148210
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f...	ORPHA:77301
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Endometrial carcinoma, Melanoma, Thick eyebrow, Breast carcinoma	ORPHA:457212
Leishmaniasis	Hypoalbuminemia	ORPHA:507
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypog...	OMIM:619055
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentr...	ORPHA:79303
Chromomycosis	Abnormal lung morphology, Multiple cutaneous malignancies, Squamous cell carcinoma	ORPHA:182
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Brain neoplasm, Decreased response to growth hormone stimulation test, N...	ORPHA:273
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia	OMIM:619075
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia, Hypoglycemia	OMIM:618329
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin	OMIM:232800
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Nail dystrop...	OMIM:610644
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:232400
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia	ORPHA:664
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Flexion contracture, Squamous cell carcinoma, Fine hair, Basal cell ...	OMIM:601675
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Proteus Syndrome	Decreased muscle mass, Neoplasm of the thymus, Abnormal lung lobation, Neoplasm of the central ne...	ORPHA:744
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia	OMIM:607765
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia	ORPHA:73272
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Hypocalcemia	OMIM:607143
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal...	ORPHA:199296
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Uterine leiomyoma, Exostoses	OMIM:616482
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Hypoketotic hypoglycemia	ORPHA:746
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi...	ORPHA:411634
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Hypocalcemia, Steatorrhea	OMIM:212750
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Type I diabetes ...	ORPHA:37042
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Medulloblastoma	Medulloblastoma	OMIM:155255
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype...	ORPHA:3008
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Decreased circulating free fatty acid level, Recurrent hypoglycemia, Increased circulating cortis...	ORPHA:79644
Bloom Syndrome	Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, Squamous ...	OMIM:210900
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Hyperproteinemia, Increased circulating renin level, Hyp...	ORPHA:90041
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia	OMIM:614736
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608836
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Familial Adenomatous Polyposis	Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the...	ORPHA:217253
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia, Steatorrhea	OMIM:613812
Glycogen Storage Disease Ixb	Hypoglycemia, Hyperuricemia	OMIM:261750
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy...	ORPHA:14
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc...	ORPHA:89842
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia, Glycosuria	OMIM:613404
Hypophosphatasia	Hypercalcemia	ORPHA:436
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine...	ORPHA:3202
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Rothmund-Thomson Syndrome Type 1	Calcinosis, Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or ...	ORPHA:221008
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Alg12-Cdg	Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ...	OMIM:268400
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Gitelman Syndrome	Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypokalemia, Diabeti...	ORPHA:358
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Alopecia, Sparse eyelashes, Hyposp...	OMIM:305000
Rothmund-Thomson Syndrome	Calcinosis, Sparse eyelashes, Alopecia totalis, Myelodysplasia, Sparse eyebrow, Squamous cell car...	ORPHA:2909
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Rothmund-Thomson Syndrome Type 2	Calcinosis, Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, ...	ORPHA:221016
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Steatorrhea, Hypocholesterolemia	OMIM:212065
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia	OMIM:617303
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoglycemia	OMIM:613658
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia	OMIM:613673
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hy...	ORPHA:199299
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia	OMIM:611881
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary c...	ORPHA:99889
Pearson Syndrome	Diabetes mellitus, Hypomagnesemia, Steatorrhea, Glycosuria, Hypokalemia, Hypocalcemia, Hypophosph...	ORPHA:699
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria	OMIM:229600
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia	OMIM:619487
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Abnormal preputium morphology, Squamous cell carcinoma, Nail dystrophy, ...	ORPHA:2907
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Al Amyloidosis	Increased circulating NT-proBNP concentration, Hypoalbuminemia	ORPHA:85443
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Neurofibromatosis, Type I	Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl...	OMIM:162200
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis	OMIM:222470
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Squamous cell carcinoma, Knee flexi...	ORPHA:477
D-Glyceric Aciduria	Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Benign Schwannoma	Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnor...	ORPHA:252164
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, In...	ORPHA:95409
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Hypercalcemia	ORPHA:97289
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ...	OMIM:248600
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia, Hypercalcemia	OMIM:131100
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Infantile Liver Failure Syndrome 2	Hypoglycemia, Hyperammonemia	OMIM:616483
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria	OMIM:616026
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Graft Versus Host Disease	Hyperbilirubinemia	ORPHA:39812
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Trichothiodystrophy	Sparse scalp hair, Brittle hair, Multiple joint contractures, Cryptorchidism, Recurrent bronchopu...	ORPHA:33364
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia	ORPHA:544482
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Marburg Hemorrhagic Fever	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	ORPHA:99826
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Monosomy 13Q34	Insulin resistance, Hypercalcemia	ORPHA:96168
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Hyperbilirubinemia, Steatorrhea	OMIM:557000
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Hyperkalemia, In...	ORPHA:85138
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia	ORPHA:505248
Reynolds Syndrome	Calcinosis, Hyperbilirubinemia, Steatorrhea	OMIM:613471
Sotos Syndrome	Sacrococcygeal teratoma, Hip contracture, Astrocytoma, Hypospadias, Ankle flexion contracture, Ph...	ORPHA:821
Autoimmune Hepatitis	Increased total bilirubin	ORPHA:2137
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Phimosis, Flexion contracture, Neoplasm of the urethra, Squamous cell ca...	ORPHA:2908
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Recurrent upper respiratory tract in...	ORPHA:391487
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Primary Sclerosing Cholangitis	Type I diabetes mellitus, Hypoalbuminemia	ORPHA:171
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Caroli Disease	Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration	ORPHA:53035
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy...	OMIM:601678
Lathosterolosis	Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H...	OMIM:607330
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Xanthelasma	ORPHA:30391
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Diabetes mellitus, Hypercalcemia, Hypophosphatemia	ORPHA:249
Congenital Erythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Squamous cell carcinoma, Neoplasm of the skin, Fac...	ORPHA:79277
Caroli Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:480520
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Recurrent hypoglycemia, Decreased circulating cortisol level	OMIM:620305
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia	ORPHA:464321
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Increased circul...	OMIM:614866
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia	OMIM:270400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Flexion contracture, Squamous cell carcinoma, Basal cell carcinoma, Nail ...	ORPHA:79408
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Hypospadias, Pneumonia, Cryptorchidism, Pilomatrixoma, Spinal c...	ORPHA:353281
Pheochromocytoma	Hypercalcemia	OMIM:171300
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Pneumonia, Pneumothorax, Squamous cell carcinoma, Nail dystrophy	ORPHA:79404
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Diastasis recti, Cryptorchidism, Pancreatic hyper...	OMIM:130650
Somatostatinoma	Increased circulating cortisol level, Diabetes mellitus, Hypercalcemia, Steatorrhea	ORPHA:97283
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:619381
Tetrasomy 9P	Absent gallbladder, Myositis, Pilomatrixoma, Cryptorchidism, Jaundice, Biliary atresia, Oligozoos...	ORPHA:3310
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Fasting hyperinsulinemia, Increased circulating cortisol level, Hyperinsulinemic h...	ORPHA:276152
Vipoma	Hypokalemia, Diabetes mellitus, Increased circulating cortisol level, Hypercalcemia	ORPHA:97282
Ogden Syndrome	Hyperbilirubinemia, Maternal diabetes	OMIM:300855
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Glycosuria,...	ORPHA:447
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Senior-Boichis Syndrome	Increased total bilirubin	ORPHA:84081
Glucagonoma	Increased circulating cortisol level, Diabetes mellitus, Hypercalcemia, Steatorrhea	ORPHA:97280
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Increased glucagon level, Hypercalcemia	ORPHA:913
Cranioectodermal Dysplasia 2	Hyperbilirubinemia	OMIM:613610
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia	OMIM:619475
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia	ORPHA:163956
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hypomagnesemia	OMIM:619503
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia	OMIM:618278
Ppoma	Increased circulating cortisol level, Hypercalcemia	ORPHA:97278
Degcags Syndrome	Hyperbilirubinemia	OMIM:619488
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Diabetes mellitus, Hypocalcemia, Increased VLDL cholesterol concen...	OMIM:243800
Leptospirosis	Hyperproteinemia	ORPHA:509
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Hypospadias, Pneumonia, Highly arched eyebrow, Trichiasis, Cryp...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Hypospadias, Pneumonia, Highly arched eyebrow, Trichiasis, Cryp...	ORPHA:353277
Hardikar Syndrome	Hyperbilirubinemia	OMIM:301068
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ...	ORPHA:3337
Grfoma	Increased circulating cortisol level, Hypercalcemia	ORPHA:97261
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia	OMIM:620186
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Charge Syndrome	Hypocalcemia	OMIM:214800
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Multiple Endocrine Neoplasia Type 1	Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia	ORPHA:652
Pmm2-Cdg	Insulin resistance, Reduced thyroxin-binding globulin, Hyperinsulinemia, Hypoalbuminemia	ORPHA:79318
Williams Syndrome	Type II diabetes mellitus, Abnormal circulating lipid concentration, Hypercalcemia, Elevated circ...	ORPHA:904
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Williams-Beuren Syndrome	Glucose intolerance, Diabetes mellitus, Hypercalcemia	OMIM:194050
Sarcoidosis	Hypercalcemia	ORPHA:797
Infantile Liver Failure Syndrome 3	Hyperammonemia	OMIM:618641

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rint1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rint1.

No publications found that use IMPC mice or data for Rint1.

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MGI Allele	Allele Type	Produced
Rint1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Rint1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Rint1^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rint1 MGI:1916233

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

Sleep Wake

X-ray

X-ray

X-ray

Embryo LacZ

Eye Morphology

Combined SHIRPA and Dysmorphology

Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Rint1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data